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Journal articles on the topic 'Congenital malformation of upper limb'

Author: Grafiati

Published: 4 June 2021

Last updated: 18 February 2022

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1

Lamb, Douglas W. "Congenital malformation of the upper limb." Current Orthopaedics 4, no. 4 (1990): 263–70. http://dx.doi.org/10.1016/0268-0890(90)90061-j.

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2

Marsden, N., K. Shokrollahi, K. Maw, A. Sierakowski, FA Bhat, and B. Mathur. "Congenital vascular malformation associated with multiple cranial, vertebral and upper limb skeletal abnormalities." Annals of The Royal College of Surgeons of England 92, no. 5 (2010): e18-e20. http://dx.doi.org/10.1308/147870810x12699662980114.

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The association between congenital vascular malformations and altered bone growth, the so-called vascular bone syndrome, is well documented. Various eponymous syndromes each with their individual traits, such as Klippel–Trenaunay, Parkes–Weber and Servelle–Martorell syndrome have been described, along with variations. We report on a previously undescribed case of congenital vascular malformation associated with multiple skeletal abnormalities affecting the skull, vertebrae and right upper limb, and discuss the literature.

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3

Hsu, Ya-Chi, Sheng-Yang Huang, and Chia-Man Chou. "Giant congenital arteriovenous malformation over right upper limb causing heart failure." Asian Journal of Surgery 43, no. 10 (2020): 1016–17. http://dx.doi.org/10.1016/j.asjsur.2020.05.035.

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4

Pinto Netto, Henrique de Barros, Antônio Pedro Pais, Simone Costa Vitorio, Renata Brandão, Aline Aparecida Depianti Moreira, and Luiz Raphael Molinaro Neto. "CASE STUDY OF CONGENITAL ANOMALIES OF THE UPPER LIMB IN REFERENCE AMBULATORY CARE FACILITY." Acta Ortopédica Brasileira 26, no. 5 (2018): 325–27. http://dx.doi.org/10.1590/1413-785220182605197649.

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ABSTRACT Objective: The epidemiological profile of congenital anomalies of the upper limbs (CAULs) is of major relevance to monitoring and planning. A study of this profile may reveal if there is prevalence of some specific type of malformation in comparison to a more comprehensive epidemiological sample. The Latin American Collaborative Study of Congenital Malformations (ECLAMC) has an extensive database, providing an excellent source of comparison. This study aims to evaluate the epidemiological profile of CAULs at the hand surgery department of the Hospital Federal da Lagoa (HFL) in Brazil,

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5

Bhatnagar, A., and M. Deshpande. "Rare Case of Servelle Martorelle Syndrome." Kathmandu University Medical Journal 10, no. 4 (2014): 91–94. http://dx.doi.org/10.3126/kumj.v10i4.11011.

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Servelle Martorelle Syndrome is a congenital vascular malformation associated with soft tissue hypertrophy and bony hypoplasia. This rarely involves whole of an extremity, with involvement of part of limbs reported in literature. We present a case of a twelve year boy who presented to the Department of Plastic Surgery SGPGIMS in April 2011 ,with history of circumferential soft tissue hypertrophy involving whole of left upper limb, scapular region and axilla since birth. The entire left upper limb length was lesser than the right upper limb. Hence this is a very rare case of Servelle Martorelle

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Ohara, Nobusuke, Tetsuro Miyata, Hiroshi Yasuhara, Hiroshi Shigematsu, and Tetsuichiro Muto. "Successful Upper Limb Salvage After Aneurysm Rupture Due to Congenital Arteriovenous Malformation." Vascular Surgery 34, no. 5 (2000): 497–501. http://dx.doi.org/10.1177/153857440003400517.

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7

Lin, Angela E., and Joseph K. Perloff. "Upper limb malformations associated with congenital heart disease." American Journal of Cardiology 55, no. 13 (1985): 1576–83. http://dx.doi.org/10.1016/0002-9149(85)90976-2.

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8

Togrul, Emre, Yaman Sarpel, and Huseyin Bayram. "Congenital Unilateral Synostosis of Elbow Associated with Multiple Hand Anomalies (Case Report)." Hand Surgery 02, no. 01 (1997): 47–52. http://dx.doi.org/10.1142/s0218810497000082.

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Congenital synostosis of the elbow is a very rare malformation of the upper limb. We present two similar cases with congenital humeroradial synostosis in association with absence of the ulnar carpals, fourth and fifth metacarpals and phalanges, and syndactily between the second and third fingers. Both cases were male and their anomalies were on the right side. In the second case, an Aitken type-2 proximal focal deficiency of femur was also present.

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9

Hanafi, Hasaruddin R., and Zahar A. Zakaria. "Prenatal Diagnosis of Thoracoschisis and Review of Literature." Case Reports in Obstetrics and Gynecology 2017 (2017): 1–4. http://dx.doi.org/10.1155/2017/9821213.

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Thoracoschisis is a rare congenital malformation characterized by herniation of the abdominal content through a defect in the thorax. There are previously 12 reported cases, most discussing the postnatal findings and management. Here we describe a case of left thoracoschisis with associated upper limb abnormality which was diagnosed antenatally with the aid of 3D ultrasound.

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10

Koskimies-Virta, E., I. Helenius, N. Pakkasjärvi, and Y. Nietosvaara. "Hospital Care and Surgical Treatment of Children With Congenital Upper Limb Defects." Scandinavian Journal of Surgery 109, no. 3 (2019): 244–49. http://dx.doi.org/10.1177/1457496919835988.

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Background and Aims: To evaluate hospital care of children with congenital upper limb defects. Materials and Methods: Three hundred and sixty-two children with an upper limb defect, born 1993–2005, and alive after birth admission were identified in the Finnish Register of Congenital Malformations. The data on hospital care, with focus on operative treatment, were collected from the National Hospital Discharge Register, until 31 December 2009. Mean follow-up was 10.2 years (range: 4–17 years). The results were compared with data on the whole children population (1.1 million) in Finland. Results

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11

Tonkin, M. A. "Classification of congenital anomalies of the hand and upper limb." Journal of Hand Surgery (European Volume) 42, no. 5 (2017): 448–56. http://dx.doi.org/10.1177/1753193417690965.

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The Oberg, Manske, Tonkin Classification of congenital anomalies of the hand and upper limb utilizes dysmorphological concepts to distinguish Malformations from Deformations and Dysplasias. Malformations are abnormalities of Formation and/or Differentiation of tissues. Deformations are abnormalities which occur after tissue is formed. Dysplasias are abnormalities which result from a lack of normal organization of cells into tissue. Malformations are sub-grouped according to whether the abnormality affects the hand alone or the whole of the upper limb; and according to which, if any, of the thr

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12

Tonkin, Michael A., and Kerby C. Oberg. "The OMT Classification of Congenital Anomalies of the Hand and Upper Limb." Hand Surgery 20, no. 03 (2015): 336–42. http://dx.doi.org/10.1142/s0218810415400055.

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The Oberg, Manske and Tonkin (OMT) Classification of congenital anomalies of the hand and upper limb uses dysmorphological terminology, placing conditions in one of three groups: Malformations, Deformations and Dysplasias. The main group, Malformations, is further subdivided according to whether the whole of the limb is affected or the hand plate alone, and whether the primary insult involves one of the three axes of limb development and patterning or is non-axial. The common surgical diagnoses, such as thumb duplication and thumb hypoplasia, are then placed within this framework. Recently the

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Özdemir, Meltem, Rasime Pelin Kavak, and Önder Eraslan. "Upper Limb Meromelia with Oligodactyly and Brachymesophalangy of the Foot: An Unusual Association." Case Reports in Radiology 2019 (June 24, 2019): 1–5. http://dx.doi.org/10.1155/2019/3419383.

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Meromelia is a rare skeletal abnormality characterized by the partial absence of at least one limb. Several mechanisms have been postulated to explain the etiopathogenesis of the disorder. Most of the cases of meromelia are reported to be sporadic. It can occur either in isolation or with other congenital malformations. VACTERL association, gastroschisis, atrial septal defect, proximal femoral focal deficiency, and fibular hemimelia are the congenital abnormalities reported to be in association with meromelia. However, no other congenital abnormalities in association with meromelia have been r

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Polizzi, Agata, Stefania Salafia, Elena Praticò, et al. "Megalencephaly Capillary Malformation Syndrome." Journal of Pediatric Neurology 16, no. 05 (2018): 328–37. http://dx.doi.org/10.1055/s-0038-1667010.

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AbstractMegalencephaly capillary malformation polymicrogyria (MCAP) syndrome is characterized by the sporadic occurrence of congenital and progressive megalencephaly, brain malformations including polymicrogyria, pre- and postnatal overgrowth with body asymmetry, cutaneous vascular malformations (including capillary malformation and cutis marmorata), digital anomalies connective tissue dysplasia (including skin and joint laxity), and developmental delay. In the past 10 years, the specific cause of the disease has been found in gain-of-function mutations of PIK3CA gene, mostly somatic/postzygot

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Natraj Setty, Huliurdurga Srinivasa Setty, Somanna Shankar, Mogalahally Channabasappa Yeriswamy, and Cholenahally Nanjappa Manjunath. "Congenital double mitral orifice with severe mitral regurgitation-associated rheumatoid arthritis: a case report." European Heart Journal - Case Reports 4, no. 4 (2020): 1–4. http://dx.doi.org/10.1093/ehjcr/ytaa119.

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Abstract Background A double orifice mitral valve (DOMV) represents a rare congenital malformation characterized by two valve orifices with two separate subvalvular apparatus. Double orifice mitral valve is congenital anomaly of the subvalvular mitral valve apparatus consisting of an accessory bridge of fibrous tissue, which partially or completely divides the mitral valve into two orifices. Case summary A 30-year young male presented with dyspnoea and palpitation for 4 years, joint pain for 2 years and weakness of right upper limb and lower limb for 6 months. On clinical examination, Boutonni

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16

James, Michelle A., and Peter F. Armstrong. "Introduction: The Science and the Surgery of Congenital Upper-Limb Malformations." Journal of Bone and Joint Surgery-American Volume 91, Suppl 4 (2009): 1–2. http://dx.doi.org/10.2106/jbjs.i.00434.

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17

Afzal, Muhammad, and Sajid Malik. "Longitudinal deficiency of upper limb: similar case presentation of two subjects with unilateral ulnar hemimelia, carpal and metacarpal deficiency, and severe oligodactyly." Asian Biomedicine 8, no. 4 (2014): 569–75. http://dx.doi.org/10.5372/1905-7415.0804.329.

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Abstract Background: Longitudinal deficiency of upper limbs with oligodactyly is a very rare congenital malformation. It manifests itself as preaxial or postaxial hypoplasia/aplasia of long bones accompanied by reduction of palm and phalanges. Objective: To report two cases with essentially similar phenotypic presentation characterized by unilateral mesomelic shortening of limb, ulnar hypoplasia, and severe deficiency of skeletal elements of hand that were found in unrelated individuals. Methods: Review of clinical and family history, phenotypic examination, physical and radiological investiga

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18

Ahmed, Md Khurshed, Harisul Hoque, SM Mustafa Zaman, et al. "Holt-Oram Syndrome: A Variety of Heart-Hand Syndrome." University Heart Journal 13, no. 2 (2018): 67–71. http://dx.doi.org/10.3329/uhj.v13i2.37666.

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Holt-Oram syndrome (HOS) is a heart-upper limb malformation complex , is a rare autosomal dominant disorder, caused by a mutation in the TBX5 gene located on chromosome 12 and near complete penetrance but variable expression. Holt and Oram first described this syndrome in 1960. Approximately 40% of cases represent new mutations. The syndrome is associated with defective development of cardiac structures that results in atrial septal defect(ASD), most commonly the secundum type; heart block of varying degree or both.The syndrome is characterized by cardiac malformations and aplasia or hypoplasi

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19

Lazareff, Jorge A., Marcelo Galarza, Tooraj Gravori, and Theodore J. Spinks. "Tonsillectomy without craniectomy for the management of infantile Chiari I malformation." Journal of Neurosurgery 97, no. 5 (2002): 1018–22. http://dx.doi.org/10.3171/jns.2002.97.5.1018.

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Object. The authors report their experience with 15 pediatric patients who underwent resection or shrinkage of the cerebellar tonsils without craniectomy or laminectomy, for the management of Chiari I malformation. Methods. The procedure was performed in six boys and nine girls with a mean age of 10 years. Thirteen patients presented with the congenital form of this disorder and two patients with Chiari I malformation caused by lumboperitoneal shunting. Clinical complaints included headaches (seven patients), scoliosis (four patients), numbness of the extremities (four patients), and upper-lim

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20

Senes, Filippo M., Maria Grazia Calevo, Roberto Adani, et al. "Hand and Upper Limb Malformations in Italy: A Multicentric Study." Journal of Hand Surgery (Asian-Pacific Volume) 26, no. 03 (2021): 345–50. http://dx.doi.org/10.1142/s2424835521500302.

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Background: Although hand and upper limb malformations are quite frequent, up to now very few reports have been published on epidemiology. The aim of this study is to evaluate the number of infants who presented with hand and upper limb malformations from 2010 to 2015 in Italy. Methods: A retrospective analysis of a pediatric population presenting with hand and upper extremity malformations was carried out, gathering reports achieved from eight Italian Centers of pediatric hand surgery. Other factors such as gender, date and region of birth, family distribution of malformations and associated

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21

Al-Qattan, Mohammed M., Mohammed A. Al-Balwi, Ebtehal M. Al-Zayed, Mohammed Al-Sohaibani, Adnan G. Gelidan, and Saeed Alsheiban. "Late-onset multiple venous malformations confined to the upper limb: link to somatic MAP3K3 mutations." Journal of Hand Surgery (European Volume) 45, no. 10 (2020): 1023–27. http://dx.doi.org/10.1177/1753193420922459.

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Venous (cavernous) malformations are commonly seen in the upper limb. Almost all venous malformations are congenital. They may be sporadic, familial, or syndromic. Late-onset, multiple venous malformations confined to the upper limb are rare. Lesions present after puberty. All previously reported cases were located subcutaneously and were small in size. The condition is non-hereditary and non-syndromic. We present a unique series of eight patients with this rare condition. Unique features included the presence of large malformations (up to 20 cm in diameter) and the presence of subfascial lesi

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HILL, R. A., R. W. H. PHO, and V. P. KUMAR. "Resection of Vascular Malformations." Journal of Hand Surgery 18, no. 1 (1993): 17–21. http://dx.doi.org/10.1016/0266-7681(93)90187-k.

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A retrospective study was undertaken of 15 cases of congenital vascular malformations of the upper limb with a mean follow-up of 5.6 years. Malformations were classified on the basis of tissue involvement into local and diffuse types and the outcome of a radical surgical approach was assessed. There were seven cases of recurrence (47%). Recurrence was more frequent in the diffuse type and when excision was considered incomplete.

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Lamb, D. W., R. Wynne-Davis, and L. Soto. "An estimate of the population frequency of congenital malformations of the upper limb." Plastic and Reconstructive Surgery 75, no. 5 (1985): 774. http://dx.doi.org/10.1097/00006534-198505000-00069.

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24

Koskimies, Eeva, Nina Lindfors, Mika Gissler, Jari Peltonen, and Yrjänä Nietosvaara. "Congenital Upper Limb Deficiencies and Associated Malformations in Finland: A Population-Based Study." Journal of Hand Surgery 36, no. 6 (2011): 1058–65. http://dx.doi.org/10.1016/j.jhsa.2011.03.015.

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25

Baishya, Rupak Jyoti, Rubi Saikia, and Shobhana Medhi. "Abnormal formation of medial cord of brachial plexus - a case report." National Journal of Clinical Anatomy 05, no. 02 (2016): 100–102. http://dx.doi.org/10.1055/s-0039-3401596.

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AbstractBrachial plexus is the plexus of nerves that supplies the upper limb. The anterior divisions of upper and middle trunks form lateral cord and that of the lower trunk form medial cord. Posterior divisions of all the three trunks form the posterior cord. Here we report a case of unilateral variation in the formation of medial cord of brachial plexus during dissection of a female perinatal cadaver of 34 weeks of gestation which was dissected as a part of Congenital Malformation Survey conducted in the Department of Anatomy, Assam Medical College, Dibrugarh with necessary ethical clearance

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Bejiqi, Ramush, Ragip Retkoceri, Arlinda Maloku, Aferdita Mustafa, and Rinor Bejiqi. "Holt–Oram Syndrome Associated with Complex Congenital Heart Disease: A Rare Case Presentation and Literature Review." Open Access Macedonian Journal of Medical Sciences 8, no. C (2020): 36–40. http://dx.doi.org/10.3889/oamjms.2020.4287.

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BACKGROUND: First described by Holt and Oram in 1960 in a four-generation family with atrial septal defects and thumb abnormalities, is an inherited disorder characterized by abnormalities of the upper limbs and heart. This syndrome is characterized by upper extremity malformations involving radial, thenar, or carpal bones. An abnormal carpal bone is present in all affected individuals and may be the only evidence of disease. About 75% of individuals with Holt–Oram syndrome (HOS) have a congenital heart malformation which may include an atrial or ventricular septal defect or heart block. In ra

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Mansour, Sahar, Emma Baple, and Christine M. Hall. "A clinical review and introduction of the diagnostic algorithm for thalidomide embryopathy (DATE)." Journal of Hand Surgery (European Volume) 44, no. 1 (2018): 96–108. http://dx.doi.org/10.1177/1753193418800631.

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Thalidomide embryopathy results from the ingestion of thalidomide in the first trimester during pregnancy, causing multiple forms of congenital abnormalities of variable severity that involve all systems. The skeletal findings most frequently affect the limbs, particularly the upper limbs and hands. Increasingly, several genetic disorders with similar birth defects have been identified. New cases of malformations owing to possible exposure to thalidomide continue to present through both historical and current usage. However, inadequate proof of ingestion, marked phenotypic variation and the po

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Auzina, Luize, Elina Skuja, Toms Janis Safranovs, et al. "A giant arteriovenous malformation and fistula in a newborn with Parkes Weber syndrome. Case report." Acta medica Lituanica 28, no. 2 (2020): 49–58. http://dx.doi.org/10.15388/amed.2020.27.2.7.

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Parkes Weber syndrome (PWS) is a rare congenital condition characterized by capillary cutaneous malformation, limb hypertrophy and multiple arteriovenous fistulas of the affected extremity. Another feature is a port-wine stain on the affected area. PWS is caused by genetic variations in the RAS p21 protein activator (RASA1) gene which affects the development of the vascular system. We report a case of a female neonate presenting with dyspnoea and cardiovascular insufficiency at the time of birth. The left upper extremity (LUE) and shoulder were enlarged (circumference at the midpoint was 17cm

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Tempaku, Akira, Terumasa Kuroiwa, and Akimasa Nishio. "Aberrant left subclavian artery occlusion in right-sided aortic artery associated with left cerebral infarction: A case report." Interventional Neuroradiology 24, no. 3 (2018): 322–26. http://dx.doi.org/10.1177/1591019917753826.

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Purpose Right-sided aortic arch is a rare vessel anomaly with an incidence of 0.1% worldwide. Supra-aortic branches form a mirror image of the left-sided aortic arch or an aberrant left subclavian artery associated with Kommerell diverticulum. Most patients are diagnosed by a difference in blood pressure in each upper extremity or by the presence of left subclavian steal syndrome in their younger age. The diagnosis of onset of ischemic stroke in middle age is rare. Methods We present the case of a female patient who presented with an ischemic stroke in the left posterior circulation area. She

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Acar, Zeydin, Abdulkadir Kırış, Hüseyin Bektaş, and Tuncay Erden. "Short- and mid-term effects of covered stent implantation on extremity findings and heart failure in Parkes Weber syndrome: a case report." European Heart Journal - Case Reports 4, no. 2 (2020): 1–4. http://dx.doi.org/10.1093/ehjcr/ytaa046.

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Abstract Background Parkes Weber syndrome (PWS) is a congenital disease characterized by vascular malformations, such as arteriovenous fistulas (AVFs). It frequently presents with overgrowth of a lower limb and high-output heart failure. The main treatment is to close vascular malformations. Surgical excision or endovascular coil insertion was performed in a few patients with AVFs. However, vascular covered stent implantation has not been used for treating PWS. Case summary A 15-year-old male patient with PWS presented to our hospital because of dyspnoea and massive left upper limb swelling. A

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Dasgupta, MK, A. Dutta, S. Sarkar, C. Patra, and C. Dey. "Unilateral Hypoplastic Kidney in a Case of Holt-Oram Syndrome." Journal of Nepal Paediatric Society 33, no. 1 (2013): 77–79. http://dx.doi.org/10.3126/jnps.v33i1.7127.

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Holt-Oram syndrome (HOS) is characterised by skeletal abnormalities of the upper limb & congenital cardiac defects. Here we report a case of one day old male baby with skeletal abnormalities of forearms and hands, atrial septal defect of ostium secundum type and unilateral hypoplastic kidney. Till date, other associated anomalies like extra-hepatic portal hypertension, renal artery malformations etc have been reported with Holt-Oram syndrome, but it is the first case to be reported in association with hypoplastic kidney. DOI: http://dx.doi.org/10.3126/jnps.v33i1.7127 J Nepal Paediatr Soc.

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Ekemenye, Okoro Philemon, and Otene Cletus Ikechukwu. "Profile of congenital digital anomalies in children seen in two tertiary health facilities in Southern Nigeria." International Surgery Journal 7, no. 4 (2020): 966. http://dx.doi.org/10.18203/2349-2902.isj20201373.

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Background: Anomalies of the digits are among the common congenital limb anomalies seen worldwide. Whereas the majority of these digital malformations are relatively minor and require simple treatment, some of them are complex and often associated with other anomalies and systemic disorders. Reports on the occurrence of these anomalies and their treatment are scanty in our region. The study sought to evaluate the burden of these digital anomalies among paediatric patients seen in our centres and outcome of treatment.Methods: Study was carried out as a prospective study in two tertiary health f

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Petrova, E. V., O. E. Agranovich, M. V. Savina, E. L. Gabbasova, V. P. Snishchuk, and A. Yu Mushkin. "Staged surgical treatment of brachioplexopathy in an adolescent with Klippel-Feil syndrome: a rare clinical case and literature review." Hirurgiâ pozvonočnika (Spine Surgery) 18, no. 1 (2021): 6–13. http://dx.doi.org/10.14531/ss2021.1.6-13.

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Klippel-Feil syndrome is a congenital malformation, the leading component of which is a violation of segmentation of the cervical vertebral bodies. The syndrome can be combined with other skeletal anomalies: skull asymmetry, scoliosis, high shoulder blades, and cervical ribs. Treatment of the syndrome is usually symptomatic; indications for surgical treatment are progressive neurological disorders and persistent pain syndrome, which usually develop due to instability of unblocked segments, or neurogenic pain. A clinical case of treatment of a 17-year-old patient with Klippel-Feil syndrome who

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Şener, G., K. Yiğiter, K. Bayar, and F. Erbahçeci. "Effectiveness of prosthetic rehabilitation of children with limb deficiencies present at birth." Prosthetics and Orthotics International 23, no. 2 (1999): 130–34. http://dx.doi.org/10.3109/03093649909071624.

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This study was performed to investigate the efficacy of prosthetic rehabilitation in children with congenital malformations, also to determine whether there were any factors related to family history and pregnancy which could have affected the formation of such deficiencies. Twenty-five (25) limb deficient children were provided with prostheses and received rehabilitation. A detailed family and pregnancy history was researched through the records. The ability of performing activities of daily living was scored on a four point scale. Thirteen (13) lower and 12 upper limb deficient children with

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Sánchez-Morales, Germán E., Javier E. Anaya-Ayala, María A. Serrano-Cueva, Eladio Salas-Torrez, and Carlos A. Hinojosa. "Hand Ischemia due to Steal Syndrome Associated with Multiple Arteriovenous Malformations in a Patient with Parkes-Weber Syndrome." Journal of Hand Surgery (Asian-Pacific Volume) 24, no. 01 (2019): 89–92. http://dx.doi.org/10.1142/s2424835519720019.

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Parkes Weber Syndrome (PWS) is a congenital disorder characterized by the presence of arteriovenous malformations (AVMs) in upper or lower extremities. We herein present a 35 year-old male with PWS with complex AVMs in the right upper extremity; he had been previously treated with multiple sessions of vessel embolization, sclerotherapy and AVM resections. The patient presented to our clinic with two month history of progressive hand ischemia, digit necrosis and infection. Angiography was performed demonstrating numerous AVMs and filiform flow through the ulnar artery with poor opacification of

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Mironova, N., L. Dourmishev, I. Botev, and L. Miteva. "Klippel-Trenaunay Syndrome Involving Upper Limb and Chest Wall: A Case Report and Review of the Literature." Acta Medica Bulgarica 47, no. 2 (2020): 30–33. http://dx.doi.org/10.2478/amb-2020-0020.

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AbstractThe group of congenital limb overgrowth syndromes associated with vascular malformations include various disorders, often with variable clinical expression. Klippel-Trenaunay syndrome is the most common syndrome in this group, compared to other similar disorders such as Proteus, Parkes-Weber, Sturge-Weber, Cobb, Maffucii and CLOVES syndromes. We present a case of a 55-year-old male who presented with swelling, pain, heaviness, numbness and increased local temperature, involving the right upper extremity and the right side of the chest wall and associated with a livid erythema. The pati

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Materna-Kiryluk, Anna, Katarzyna Wisniewska, Barbara Wieckowska, et al. "Maternal Risk Factors Associated with Limb Reduction Defects: Data from the Polish Registry of Congenital Malformations (PRCM)." Children 8, no. 2 (2021): 138. http://dx.doi.org/10.3390/children8020138.

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Data from the Polish Registry of Congenital Malformations (PRCM) suggest that the prevalence of limb reduction defects (LRDs) in some Polish regions is significantly higher in comparison to that reported in the European Surveillance of Congenital Anomalies (EUROCAT) registry, but specific risk factors are still unknown. The objectives of this study were two-fold: to detect risk factors linked to isolated LRDs among Polish natives and to search for geospatial clusters of isolated LRDs to identify high-risk areas across the country. Among the 2,939,001 births accounted for in the PRCM, we determ

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Manske, Mary Claire B., Nancy Abarca, and Michelle A. James. "Comparison of Patient-Reported Outcomes Measurement Information System (PROMIS) Scores for Children with Congenital Hand and Upper-Limb Malformations." Journal of Hand Surgery 43, no. 9 (2018): S22—S23. http://dx.doi.org/10.1016/j.jhsa.2018.06.057.

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Patiniott, Paul, Matheesha Herath, and Peter Riddell. "Case Report: Presentation of an unusual cause of carpal tunnel syndrome with accompanying literature review." F1000Research 8 (March 22, 2019): 319. http://dx.doi.org/10.12688/f1000research.18707.1.

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Background: Carpal tunnel syndrome (CTS) is a condition seen commonly in clinical practice; high-flow arteriovenous malformations (AVM) can be a rare but important cause. Case Report: We discuss a case of a patient who had developed left CTS in the fifth decade of life as the result of a progressively enlarging congenital peripheral AVM affecting his left upper limb. This case illustrates the clinical challenges encountered in the surgical and interventional management of this complex issue. Discussion:High-flow AVMs affecting the extremities may be comprised of a convoluted network of vessels

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Kadouri, Youssef, Damien Carnicelli, Hachem El Sayegh, Lounis Benslimane, and Yassine Nouini. "Pathogenesis, Diagnosis, and Management of Splenogonadal Fusion: A Literature Review." Case Reports in Urology 2020 (October 8, 2020): 1–7. http://dx.doi.org/10.1155/2020/8876219.

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Introduction. Splenogonadal fusion is a rare congenital anomaly, defined by the presence of ectopic splenic tissue caused by an abnormal connection between the spleen and the gonad or mesonephrotic derivatives during the embryonic period. Materials and Methods. By reporting an observational case and performing a review of the literature according to the CARE guidelines (using the PubMed database and guidelines from urology, general surgery, and pediatric learned societies), we present the embryological genesis of the splenogonadal fusion, the associated anatomical anomalies, and the diagnostic

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Ivanov, Stanislav V., Vladimir M. Kenis, Anna Y. Shchedrina, et al. "Spina bifida: a multidisciplinary problem (a literature review)." Russian Journal of Pediatric Surgery, Anesthesia and Intensive Care 11, no. 2 (2021): 201–13. http://dx.doi.org/10.17816/psaic958.

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BACKGROUND: Congenital malformations of the spine and spinal cord can be combined with various clinical manifestations of the spine, spinal cord, and lower extremities. Children with these neurological disorders often lack sensitivity and motor activity of their lower extremities and, in most cases, have bladder infections and incontinence (lack of bladder and bowel control). AIM: This study aims to analyze publications with the diagnostic and treatment results of patients with neurological, orthopedic, neurological, and ophthalmological problems with spina bifida. MATERIALS AND ME

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Guo, Qianqian, Jia Shen, Yang Liu, Tian Pu, Kun Sun, and Sun Chen. "Exome Sequencing Identifies a c.148-1G>C Mutation of TBX5 in a Holt-Oram Family with Unusual Genotype-Phenotype Correlations." Cellular Physiology and Biochemistry 37, no. 3 (2015): 1066–74. http://dx.doi.org/10.1159/000430232.

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Background/Aims: Congenital heart defects (CHD) can occur with upper limbs deformities. Holt-Oram syndrome is the main type of heart-hand syndromes, characterized by upper limb radial ray malformations, CHD and/or conduction abnormalities. Mutations of the TBX5 gene, most of which are found within the T-box domain, are one cause of the disease. We aimed to find the cause of the disease in a family with two children exhibiting symptoms of Holt-Oram syndrome while the parents tend to be normal. Methods: Chromosomal microarray analysis and exome sequencing were applied in the proband segments bea

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Kumar, Rupesh, Subhendu Sekhar Mahapatra, Monalisa Datta, et al. "Holt-Oram Syndrome in Adult Presenting with Heart Failure: A Rare Presentation." Case Reports in Cardiology 2014 (2014): 1–3. http://dx.doi.org/10.1155/2014/130617.

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Holt-Oram syndrome is a rare inherited disorder involving the hands, arms, and the heart. The defects involve carpal bones of the wrist and the thumb and the associated cardiac anomalies like atrial or ventricular septal defects. Congenital cardiac and upper-limb malformations frequently occur together and are classified as heart-hand syndromes. The most common amongst the heart-hand disorders is the Holt-Oram syndrome, which is characterized by septal defects of the heart and preaxial radial ray abnormalities. Its incidence is one in 100,000 live births. Approximately three out of four patien

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Kodytková, Aneta, Shenali Anne Amaratunga, Daniela Zemková, Klára Maratová, Stanislava Koloušková, and Jan Lebl. "Growth Hormone Deficiency: Extending the Phenotypic Spectrum of SALL4-Related Disorders." Journal of the Endocrine Society 5, Supplement_1 (2021): A700—A701. http://dx.doi.org/10.1210/jendso/bvab048.1426.

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Abstract Background: The SALL4 gene encodes sal-like protein 4, a transcription factor with eight zinc finger motifs that is essential for the development of the epiblast and primitive endoderm. In association with TBX5 (T-box), SALL4 is responsible for the establishment and morphogenesis of the thumb. Pathogenic SALL4 variants have been reported to cause Duane-radial ray syndrome (also known as Okihiro syndrome), acro-renal-ocular syndrome and Holt-Oram syndrome. Hereby, we report on a family with radial hypoplasia and kidney dystopia in members of 4 consecutive generations, and short stature

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Chatterjee, Anirban, and Malay Kumar Sinha. "Sturge-Weber syndrome: Clinico-neuroradiological features and treatment profile." Nepal Journal of Neuroscience 18, no. 3 (2021): 49–54. http://dx.doi.org/10.3126/njn.v18i3.34969.

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Introduction: Sturge Weber syndrome (SWS) is a rare, nonhereditary genetic disorder. SWS belongs to a diverse group of Neurocutaneous disorders. A somatic mutation in the early development of cells in SWS patients causes the formation of a congenital capillary vascular malformation. SWS is characterized by nevus flammeus on the face (also called Port-Wine Birthmark), brain (leptomeningeal angioma), and eyes (glaucoma). Methods and Materials: We present three patients diagnosed with Sturge Weber syndrome who attended a teaching hospital between 2013 to 2016. The clinical, neuroradiological feat

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Falcochio, Diego F., Antonio C. Da Costa, Clarissa P. I. Durigan, Valdenia Das G. Nascimento, Claudio Santili, and Ivan Chakkour. "Epidemiological and Clinical Aspects of Cleft Hand: Case Series From a Tertiary Public Hospital in São Paulo, Brazil." HAND 14, no. 6 (2018): 814–18. http://dx.doi.org/10.1177/1558944718778399.

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Background: Cleft hand is a rare and congenital deformity that affects hands and feet and can be associated with other malformations. The objective was to evaluate the epidemiological and clinical aspects of cleft hand patient in a case series. Methods: Baseline characteristics associated with this deformity, such as sociodemographic characteristics, affected upper limb side, family history, clinical manifestations, and the degree of deficiency according to Barsky, Manske and Halikis, and Valenti classifications, were analyzed in 38 patients treated in the Department of Orthopedic Surgery of t

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Chiabrando, Deborah, and Emanuela Tolosano. "Diamond Blackfan Anemia at the Crossroad between Ribosome Biogenesis and Heme Metabolism." Advances in Hematology 2010 (2010): 1–8. http://dx.doi.org/10.1155/2010/790632.

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Diamond-Blackfan anemia (DBA) is a rare, pure red-cell aplasia that presents during infancy. Approximately 40% of cases are associated with other congenital defects, particularly malformations of the upper limb or craniofacial region. Mutations in the gene coding for the ribosomal protein RPS19 have been identified in 25% of patients with DBA, with resulting impairment of 18S rRNA processing and 40S ribosomal subunit formation. Moreover, mutations in other ribosomal protein coding genes account for about 25% of other DBA cases. Recently, the analysis of mice from which the gene coding for the

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Cangussú, Luana Resende, Matheus Rodrigues Lopes, and Romero Henrique de Almeida Barbosa. "The importance of the early diagnosis of aorta coarctation." Revista da Associação Médica Brasileira 65, no. 2 (2019): 240–45. http://dx.doi.org/10.1590/1806-9282.65.2.240.

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SUMMARY INTRODUCTION: Coarctation of the aorta is a congenital heart disease characterized by a narrowing that occurs in the aortic artery. This constriction can occur anywhere along its entire length; however, it is more common between the origin of the left subclavian artery and the ductus arteriosus. Its incidence corresponds to 3 cases per 10,000 births. Thus, it is a common cardiopathy, but with high mortality and morbidity rates, which are related to a failure in the early diagnosis. METHOD: In the research, articles of the national and international literature in Pubmed, Scielo and Lila

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Gazda, Hanna T., Mee Rie Sheen, Leana Doherty, et al. "Ribosomal Protein Genes S10 and S26 Are Commonly Mutated in Diamond-Blackfan Anemia." Blood 114, no. 22 (2009): 175. http://dx.doi.org/10.1182/blood.v114.22.175.175.

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Abstract Abstract 175 Diamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome characterized by anemia usually presenting during infancy or in early childhood, birth defects, and increased risk of cancer. Although anemia is the most prominent feature of DBA, the disease is also characterized by growth retardation and congenital malformations, in particular craniofacial, upper limb, heart and urinary system defects, that are present in ∼30–50% of patients. To date, DBA has been associated with mutations in seven ribosomal protein (RP) genes, S19, S24, S17, L35A, L5, L11, and S

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Uihlein, Lily Changchien, Marilyn G. Liang, Steven J. Fishman, Ahmad I. Alomari, and John B. Mulliken. "Capillary-Venous Malformation in the Upper Limb." Pediatric Dermatology 32, no. 2 (2015): 287–89. http://dx.doi.org/10.1111/pde.12495.

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