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Artykuły w czasopismach na temat „Autosomal recessive condition”

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Data publikacji: 2 czerwca 2025

Data aktualizacji: 31 lipca 2025

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1

Baird, Patricia A., and Ann J. Worth. "Congenital generalized fibromatosis: an autosomal recessive condition?" Clinical Genetics 9, no. 5 (2008): 488–94. http://dx.doi.org/10.1111/j.1399-0004.1976.tb01602.x.

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Cecatto-De-Lima, L., M. Pinheiro, and N. Freire-Maia. "Oculotrichodysplasia (OTD): a new probably autosomal recessive condition." Journal of Medical Genetics 25, no. 6 (1988): 430–32. http://dx.doi.org/10.1136/jmg.25.6.430.

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Majumder, Poulami, Vineet Nair, Malancha Mukherjee, Sujoy Ghosh, and Subrata Kumar Dey. "The Autosomal Recessive Inheritance of Hereditary Gingival Fibromatosis." Case Reports in Dentistry 2013 (2013): 1–4. http://dx.doi.org/10.1155/2013/432864.

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Hereditary gingival fibromatosis (HGF) is a rare condition which is marked by enlargement of gingival tissue that covers teeth to various extents leading to aesthetic disfigurement. This study presents a case of a 28-year-old female patient and 18-year-old male who belong to the same family suffering from HGF with chief complaint of overgrowing swelling gingiva. The presence of enlarged gingiva with the same eruption was found in their other family members with no concomitant drug or medical history, and the occurrence of HGF has been found in one generation of this family which may indicate t

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4

Basnet, S., and A. K. Sharma. "Bardet Biedl Syndrome." Journal of Institute of Medicine Nepal 30, no. 2 (2008): 46–48. http://dx.doi.org/10.59779/jiomnepal.350.

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Stevanovic, Radmila, Sofija Glumac, Jovanka Trifunovic, Biljana Medjo, Tijana Nastasovic, and Jasmina Markovic-Lipkovski. "Autosomal recessive polycystic kidney disease: Case report." Srpski arhiv za celokupno lekarstvo 137, no. 5-6 (2009): 288–91. http://dx.doi.org/10.2298/sarh0906288s.

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Introduction. Autosomal recessive polycystic kidney disease is the most common heritable cystic renal disease occurring in infancy and childhood. The clinical spectrum of signs and symptoms of this disease is widely variable ranging from perinatal death to a milder progressive form, which cannot be diagnosed until adolescence. Case Outline. A female neonate born in the 35th/36th week of gestation. The findings of all standard medical examinations of the neonate done by the mother were within normal limits. A few days before delivery physicians at a regional medical centre revealed enlarged kid

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6

Ryznychuk, M. O., V. P. Pishak, N. V. Bacyuk-Ponych, and O. V. Pishak. "Hereditary tubulopathies accompanying polyuia." Regulatory Mechanisms in Biosystems 12, no. 3 (2021): 445–51. http://dx.doi.org/10.15421/022161.

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Tubulopathies are a group of heterogeneous diseases that are manifested in the malfunction of the renal tubules. This review addresses tubulopathies associated with polyuria syndrome, namely renal glucosuria syndrome, nephrogenic diabetes insipidus and pseudohyperaldosteronism. Types of renal glucosuria are described, namely: type A, type B and the most severe type 0. Type A is characterized by a low filtration threshold and low glucose reabsorption. The type of inheritance is autosomal recessive. Type B, autosomal dominant, is characterized by uneven activity of glucose transport, in which it

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7

DESCH, LARRY W., and WILLIAM A. HORTON. "An Autosomal Recessive Bone Dysplasia Syndrome Resembling Hypochondroplasia." Pediatrics 75, no. 4 (1985): 786–89. http://dx.doi.org/10.1542/peds.75.4.786.

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Hypochondroplasia is an autosomal dominant skeletal dysplasia characterized by mild-to-moderate shortening of the limbs, a stocky build, lordosis, and occasionally mental deficiency.1-4 Hall and Spranger5 have recently defined distinct radiographic criteria for the diagnosis of this condition. We wish to describe two siblings of normal parents whose features are quite similar to those of individuals with hypochondroplasia. The characteristics that these siblings exhibited are distinguishable from hypochondroplasia by subtle radiographic differences as well as the differing inheritance pattern.

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8

Penman, D. G., and R. J. Lilford. "The megacystis-microcolon-intestinal hypoperistalsis syndrome: a fatal autosomal recessive condition." Journal of Medical Genetics 26, no. 1 (1989): 66–67. http://dx.doi.org/10.1136/jmg.26.1.66.

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LAXOVA, RENATA, P. T. OHARA, and J. A. D. TIMOTHY. "A FURTHER EXAMPLE OF A LETHAL AUTOSOMAL RECESSIVE CONDITION IN SIBS." Journal of Intellectual Disability Research 16, no. 1-2 (2008): 139–43. http://dx.doi.org/10.1111/j.1365-2788.1972.tb01585.x.

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Nirojini, P. Sharmila, and A. Asma Fathumuthu. "A Detailed Review on Dihydropyrimidine Dehydrogenase Enzyme Deficiency-Autosomal Recessive Condition." Indian Journal of Pharmacy Practice 16, no. 2 (2023): 70–82. http://dx.doi.org/10.5530/ijopp.16.2.13.

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Bandhakavi, Meena, Amy Wanaguru, Loveline Ayuk, et al. "Clinical characteristics and treatment requirements of children with autosomal recessive pseudohypoaldosteronism." European Journal of Endocrinology 184, no. 5 (2021): K15—K20. http://dx.doi.org/10.1530/eje-20-0152.

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Introduction Autosomal recessive forms of pseudohypoaldosteronism are caused by genetic defects in the epithelial sodium channel. Little is known about the long-term outcome and medication needs during childhood and adolescence. Objective This study reports a single-centre experience of children affected with this ultra-rare condition over a 37-year period. Methods We report the clinical presentation, growth, neuro-development, associated conditions, mortality and medication dosing and administration for 12 affected children from eight families. Results All children were presented within the f

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12

Lacson, A. G., S. S. Seshia, H. B. Sarnat, et al. "Autosomal Recessive, Fatal Infantile Hypertonic Muscular Dystrophy Among Canadian Natives." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 21, no. 3 (1994): 203–12. http://dx.doi.org/10.1017/s0317167100041172.

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Abstract:We describe eleven mid-western Canadian aboriginal infants with a unique, progressive muscle disorder. All except one had muscle biopsy and/or autopsy. The infants were normal newborns who rapidly developed rigidity of all skeletal muscles, with early, respiratory insufficiency. Death occurred before 18 months of age. Electromyography showed increased insertion activity and profuse fibrillation potentials; motor unit potentials and interference pattern are normal until late in the course. Pathologic features include progressive, granular to powdery Z-band transformation, myofibrillar

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13

Ali Raza, S., S. Mahendran, Nazneen Rahman, and R. G. Williams. "Familial vocal fold paralysis." Journal of Laryngology & Otology 116, no. 12 (2002): 1047–49. http://dx.doi.org/10.1258/002221502761698829.

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Familial clustering of congenital bilateral abductor vocal fold paralysis has been reported very rarely. So far, only a handful of cases have been reported, mostly with the autosomal dominant of X-linked recessive mode of inheritance. We describe the cases of a brother and sister, who presented with neonatal stridor due to bilateral abductor vocal fold paralysis. First-degree parental consanguinity suggests an autosomal recessive mode of inheritance. Karyotype analysis revealed a paracentric balanced inversion of chromosome 13 in both cases, that was also present in the unaffected mother. An u

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Jagatha, Maha Lakshmi, Arulkumaran Arunagirinathan, and Bondada Hemanth Kumar. "Wilson disease: early screening for better living." International Journal of Contemporary Pediatrics 7, no. 5 (2020): 1191. http://dx.doi.org/10.18203/2349-3291.ijcp20201662.

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Autosomal recessive diseases are more common among consanguineous marriages noted particularly in southern parts of India. There is a gradual increase in the genome wide homogenecity with the increasing levels of consanguinity. Here we are reporting a case series of such an autosomal recessive condition, namely Wilson Disease (WD), where three children were affected with the disease, who were born out of consanguineous marriages. The first case presented with neuropsychiatric manifestations, the second case and third cases were diagnosed through screening of family members leading to earlier i

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15

Jalili, I. K. "Cone-rod congenital amaurosis associated with congenital hypertrichosis: an autosomal recessive condition." Journal of Medical Genetics 26, no. 8 (1989): 504–10. http://dx.doi.org/10.1136/jmg.26.8.504.

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Hoyer, M. J. "Hereditary laminitis in Jersey calves in Zimbabwe." Journal of the South African Veterinary Association 62, no. 2 (1991): 62–64. http://dx.doi.org/10.4102/jsava.v62i2.1593.

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The clinical signs and radiological findings of a rare laminitis-like condition in Jersey calves (n = 6) are described. Regular hoof-trimming proved very beneficial. Pedigree studies of the affected calves strongly suggest a recessive autosomal inheritance.

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17

De Sousa, Joana, Vipul Upadhyay, and Peter Stone. "Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: Case Reports and Discussion of the Literature." Fetal Diagnosis and Therapy 39, no. 2 (2015): 152–57. http://dx.doi.org/10.1159/000442050.

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Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare intestinal dysmotility condition that also involves a dilated urinary bladder. It was believed to be an autosomal recessive condition, but genetic studies have suggested possibly an autosomal dominant inheritance pattern. Prenatal diagnosis can be challenging, but MRI and amniotic fluid/digestive fluid studies may be complementary investigations to improve diagnostic accuracy. Prognosis of MMIHS is generally poor and treatment is mostly supportive. To date, bowel transplantation remains the only viable treatment to res

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18

Delatycki, Martin B. "Population Screening for Reproductive Risk for Single Gene Disorders in Australia: Now and the Future." Twin Research and Human Genetics 11, no. 4 (2008): 422–30. http://dx.doi.org/10.1375/twin.11.4.422.

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AbstractAs the results of the Human Genome Project are realized, it has become technically possible to identify carriers of numerous autosomal and X-linked recessive disorders. Couples at risk of having a child with one of these conditions have a number of reproductive options to avoid having a child with the condition should they wish. In Australia the haemoglobinopathies are the only group of conditions for which population screening is widely offered and which is government funded. In some Australian states there are also population screening programs for cystic fibrosis and autosomal reces

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19

Taşdelen, Elifcan, Ceren D. Durmaz, and Halil G. Karabulut. "Autosomal Recessive Oculodentodigital Dysplasia: A Case Report and Review of the Literature." Cytogenetic and Genome Research 154, no. 4 (2018): 181–86. http://dx.doi.org/10.1159/000489000.

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Oculodentodigital dysplasia (ODDD) is a rare condition characterized by a typical facial appearance and variable findings of the eyes, teeth, and fingers. ODDD is caused by mutations in the GJA1 gene in chromosome 6q22 and inherited in an autosomal dominant manner in the majority of the patients. However, in recent clinical reports, autosomal recessive ODDD cases due to by GJA1 mutations were also described. Here, we report on a 14-year-old boy with microphthalmia, microcornea, narrow nasal bridge, hypoplastic alae nasi, prominent columnella, hypodontia, dental caries, and partial syndactyly o

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20

Anugrah, Dikahayu Alifia, Sunartini Sunartini, and Mohammad Juffrie. "Spinal muscular atrophy with severe scoliosis: a case report." Paediatrica Indonesiana 63, no. 4 (2023): 315–20. http://dx.doi.org/10.14238/pi63.4.2023.315-20.

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Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease that causes general weakness, muscle atrophy, and poor muscle movement. This condition is due to a homozygous disruption of the survival motor neuron (SMN) 1 survival gene due to deletion, conversion, or mutation.1

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21

Rosa, Rafael Fabiano Machado, Flávia Enk, Korine Camargo, et al. "Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report." Sao Paulo Medical Journal 133, no. 4 (2014): 377–80. http://dx.doi.org/10.1590/1516-3180.2013.7930003.

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CONTEXT: The autosomal recessive form of microcephaly-chorioretinopathy syndrome is a rare genetic condition that is considered to be an important differential diagnosis with congenital toxoplasmosis.CASE REPORT: Our patient was a seven-year-old white boy who was initially diagnosed with congenital toxoplasmosis. However, his serological tests for congenital infections, including toxoplasmosis, were negative. He was the first child of young, healthy and consanguineous parents (fourth-degree relatives). The parents had normal head circumferences and intelligence. The patient presented microceph

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Katsafiloudi, M., N. Gombakis, E. Hatzipantelis, and A. Tragiannidis. "Osteopetrorickets in an infant with coexistent congenital cytomegalovirus infection." Balkan Journal of Medical Genetics 23, no. 2 (2020): 107–10. http://dx.doi.org/10.2478/bjmg-2020-0019.

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Abstract Osteopetrosis refers to a group of rare hereditary disorders characterized by generalized skeletal densification due to limited bone resorption by osteoclasts. The infantile autosomal recessive form represents the most malignant one with onset early in infancy and life expectancy less than 1-2 years without therapy. Frequently, osteopetrosis is complicated by rickets, a condition called osteopetrorickets. Currently, bone marrow transplantation remains the only treatment option. We present a case of infantile autosomal recessive osteopetrosis complicated by rickets in a 2 and a half-mo

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Baghbanian, Seyed Mohammad, Mohammad Reza Mahdavi Amiri, and Hadi Majidi. "Cerebrotendinous xanthomatosis revisited." Practical Neurology 21, no. 3 (2021): 243–45. http://dx.doi.org/10.1136/practneurol-2020-002895.

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Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage syndrome defined clinically by the triad of progressive neurodegeneration, juvenile cataracts and tendon xanthomas in adults. It is treatable, and a prompt diagnosis can improve outcomes. We describe a patient with this condition who presented with progressive ataxia.

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Khan, Amjad, Zhichao Miao, Muhammad Umair, et al. "Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants." Genes 11, no. 9 (2020): 1021. http://dx.doi.org/10.3390/genes11091021.

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Intellectual disability (ID) is a highly heterogeneous genetic condition with more than a thousand genes described so far. By exome sequencing of two consanguineous families presenting hallmark features of ID, we identified two homozygous variants in two genes previously associated with autosomal recessive ID: NDST1 (c.1966G>A; p.Asp656Asn) and METTL23 (c.310T>C; p.Phe104Leu). The segregation of the variants was validated by Sanger sequencing in all family members. In silico homology modeling of wild-type and mutated proteins revealed substantial changes in the secondary structure of bot

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Kakar, Mohib Ullah, Muhammad Akram, Muhammad Zubair Mehboob, et al. "Identification of homozygous missense variant in SIX5 gene underlying recessive nonsyndromic hearing impairment." PLOS ONE 17, no. 6 (2022): e0268078. http://dx.doi.org/10.1371/journal.pone.0268078.

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Hearing impairment (HI) is a heterogeneous condition that affects many individuals globally with different age groups. HI is a genetically and phenotypically heterogeneous disorder. Over the last several years, many genes/loci causing rare autosomal recessive and dominant forms of hearing impairments have been identified, involved in various aspects of ear development. In the current study, two affected individuals of a consanguineous family exhibiting autosomal recessive nonsyndromic hearing impairment (AR-NSHI) were clinically and genetically characterized. The single affected individual (IV

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Alanazi, Yousef A. "A case report on pseudohypoaldosteronism with a pathogenic mutation of CA12 causes autosomal recessive isolated hyperchlorhidrosis disorder." Journal of Family Medicine and Primary Care 14, no. 6 (2025): 2572–75. https://doi.org/10.4103/jfmpc.jfmpc_1444_24.

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ABSTRACT Pseudohypoaldosteronism (PHA) is a rare genetic condition characterized by the body’s inability to respond properly to the hormone aldosterone, which is essential for regulating sodium and potassium levels, as well as maintaining blood pressure. The aim is to present this case study on the mutation spectrum of the CA12 gene to help clinicians better recognize autosomal recessive isolated hyperchlorhidrosis disorder caused by CA12 gene mutations. An eight-month-old Jordanian boy presented with vomiting and diarrhea, initially treated for gastroenteritis with IV fluids and oral rehydrat

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Mannucci, Pier Mannuccio, Stefano Duga, and Flora Peyvandi. "Recessively inherited coagulation disorders." Blood 104, no. 5 (2004): 1243–52. http://dx.doi.org/10.1182/blood-2004-02-0595.

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Abstract Deficiencies of coagulation factors other than factor VIII and factor IX that cause bleeding disorders are inherited as autosomal recessive traits and are rare, with prevalences in the general population varying between 1 in 500 000 and 1 in 2 million for the homozygous forms. As a consequence of the rarity of these deficiencies, the type and severity of bleeding symptoms, the underlying molecular defects, and the actual management of bleeding episodes are not as well established as for hemophilia A and B. We investigated more than 1000 patients with recessively inherited coagulation

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Girapongsa, Luckana, Thanapat Puangpetch, Orawan Autravisitkul, and Pariyanoot Deesuwun. "Kartageners Syndrome: A Case Report in the Samutsakhon Hospital." ASEAN Journal of Radiology 19, no. 2 (2019): 164–70. http://dx.doi.org/10.46475/aseanjr.v19i2.35.

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Kartageners syndrome is an autosomal recessive disorder.1 It is characterized by the triad of situs inversus, bronchiectasis and sinusitis. Basic problem is defective movement of the cilia.3 Recognition in this condition keeps prevention for unnecessary investigation. We have presented a case of Kartageners syndrome in the Samutsakhon hospital.

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Kshirsagar, Jaishree Tukaram, Kalaiselvan Dharani, and Priyangha Thangavel. "Zimmermann–Laband syndrome-associated hereditary gingival fibromatosis." Journal of Indian Society of Periodontology 27, no. 6 (2023): 645–50. http://dx.doi.org/10.4103/jisp.jisp_582_22.

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Abstract Hereditary gingival fibromatosis (HGF) is an uncommon slow-growing fibrous overgrowth characterized by connective tissue accumulation. It presents as an isolated feature or as a manifestation of any syndrome. Various syndromes associated with HGF are inherited by autosomal dominant/recessive/X-linked traits. Zimmermann–Laband syndrome (ZLS) is a rare, autosomal dominant inherited disease manifested with gingival fibromatosis (GF), nose and ears abnormalities, and hypoplastic/dysplastic nails or terminal phalanges of hand and feet. Although the pattern of inheritance was found to be bo

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COLE, DAVID E. C., and GARY A. QUAMME. "Inherited Disorders of Renal Magnesium Handling." Journal of the American Society of Nephrology 11, no. 10 (2000): 1937–47. http://dx.doi.org/10.1681/asn.v11101937.

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Abstract. The genetic basis and cellular defects of a number of primary magnesium wasting diseases have been elucidated over the past decade. This review correlates the clinical pathophysiology with the primary defect and secondary changes in cellular electrolyte transport. The described disorders include (1) hypomagnesemia with secondary hypocalcemia, an earlyonset, autosomal-recessive disease segregating with chromosome 9q12-22.2; (2) autosomal-dominant hypomagnesemia caused by isolated renal magnesium wasting, mapped to chromosome 11q23; (3) hypomagnesemia with hypercalciuria and nephrocalc

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Ouali, A. El, I. Bounnite, S. Moussaoui, et al. "CLINICAL MANIFESTATIONS AND DIAGNOSTIC CHALLENGES OF KARTAGENER SYNDROME." International Journal of Advanced Research 12, no. 06 (2024): 909–13. http://dx.doi.org/10.21474/ijar01/18954.

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Kartagener syndrome (KS) is an uncommon autosomal recessive genetic disorder characterized by the triad of bronchiectasis, chronic rhinosinusitis, and situs inversus. It is a specific phenotype within the spectrum of primary ciliary dyskinesia (PCD), a condition involving dysfunctional ciliary motility. Early diagnosis is crucial for effective management of the associated respiratory complications.

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Aguir, Dr Sameh, Dr Sameh Rezigui, Pr Wafa Nasri, Pr Abdellatif Chokri, Pr Hiba Triki, and Pr Lamia Mansour. "Rehabilitation of a Patient with Amelogenesis Imperfecta: A Multidisciplinary Approach." EAS Journal of Dentistry and Oral Medicine 6, no. 03 (2024): 35–41. http://dx.doi.org/10.36349/easjdom.2024.v06i03.004.

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Amelogenesis imperfecta (AI) is a genetic disorder affecting enamel development affecting its structure and clinical appearance. It can affect both primary and/or permanent teeth and may be linked with nephrocalcinosis. Autosomal dominant inheritance is the main transmission mode of AI, but autosomal recessive, X-linked can also occur in some cases. AI is a serious condition that can result in reduced oral health-related quality of life and causes some psychological disturbance This article presents a case report of a partially edentulous patient with amelogenesis imperfecta along with its fea

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Mohamed, Razan, Ghadah Azzah, and Barbara Piel. "Diamond–Blackfan anaemia presents as pathological foetal CTG and severe neonatal anaemia." BMJ Case Reports 18, no. 4 (2025): e262786. https://doi.org/10.1136/bcr-2024-262786.

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Diamond–Blackfan anaemia (DBA) is a rare congenital disorder characterised by pure red cell aplasia and often associated with various congenital anomalies. This chronic condition has a heterogeneous genetic profile, typically inherited in an autosomal dominant manner, though rare cases of autosomal recessive inheritance exist. Most patients (90%) exhibit symptoms before 12 months of age, with the median age of presentation and diagnosis being approximately 2 months. This report presents a unique case of DBA identified at birth, resulting in a preterm delivery. The patient continues to be manag

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LEES, V. C., J. H. HERSH, and L. R. SCHEKER. "The Surgical Management of the Upper Extremity Anomalies Associated with Du Pan Syndrome." Journal of Hand Surgery 23, no. 1 (1998): 57–61. http://dx.doi.org/10.1016/s0266-7681(98)80220-9.

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Du Pan syndrome is a rare condition comprising complex brachydactyly with fibular hypoplasia that is inherited in an autosomal recessive manner. This article describes experience gained through the management of four patients with this disorder. The surgical management of the upper limb abnormalities is discussed and a detailed timetable for their treatment is suggested.

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Pejaver, R. Kumar, and A. H. Watson. "Glutathione Synthetase Deficiency: A Family Report." Journal of the Royal Society of Medicine 87, no. 3 (1994): 171. http://dx.doi.org/10.1177/014107689408700321.

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Glutathione synthetase deficiency is a rare inborn error of metabolism. Low levels of and at times unstable molecules of glutathione synthetase leads to glutathione deficiency affecting various systems of the body. The inheritance is thought to be of autosomal recessive variety. We diagnosed the condition in a neonate and proceeded to investigate the family. The results are discussed below.

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P., Hemalatha, Chaitanya Deepthi R., Udayalakshmi K., Nirmala G., and Lakshmi P. "Case report on laurence moon biedyl syndrome." International Journal of Basic & Clinical Pharmacology 6, no. 4 (2017): 1001. http://dx.doi.org/10.18203/2319-2003.ijbcp20171120.

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Laurence moon Biedyl syndrome is a rare autosomal recessive condition with a wide spectrum of clinical features. The accepted major criteria for diagnosis include retinal dystrophy, obesity, Polydactyly, male hypogonadism, mental retardation and renal dysfunction. We have presented a 36 year old male patient exhibiting characteristic features of Laurence moon Biedyl syndrome and then the literature is reviewed.

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Tajdini, Masih, Mehdi Bayati, and Ali Vasheghani-Farahani. "Aortic dissection and cystinosis: is there any relationship?" Cardiology in the Young 27, no. 7 (2017): 1434–36. http://dx.doi.org/10.1017/s1047951117000671.

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AbstractCystinosis is a rare, autosomal-recessive genetic disorder. The kidneys are commonly involved, as there is cystinosin protein malfunction, and nephropathic cystinosis ensues. Although cardiac and vascular involvements are rare, we describe a unique case of aortic dissection in a 25-year-old female with cystinosis. We discuss the possible aetiologies of aortic dissection in this condition.

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Mounica, Adari, A. Vinitha, K. Sumathi, Preethi S, and Sudharshanraj C. "Gilbert syndrome with elevated liver enzymes!" Panacea Journal of Medical Sciences 15, no. 1 (2025): 240–42. https://doi.org/10.18231/pjms.v.15.i.1.240-242.

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Gilbert syndrome is a benign autosomal recessive condition of defective bilirubin metabolism in the liver. This syndrome may manifest with recurrent episodes of jaundice due to reduced glucuronidation of bilirubin resulting in raised unconjugated bilirubin levels but normal levels of transaminases. It results from polymorphisms in the UGT1A1 gene responsible for the conjugation of bilirubin. Even though it is a benign condition, it is of clinical importance because the hyperbilirubinemia can be precipitated by certain conditions like puberty, stress, infections, and menses. The present case re

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Vyshak, B. M., and Snehal B. Lunge. "Congenital true leukonychia totalis." International Journal of Research in Dermatology 6, no. 3 (2020): 436. http://dx.doi.org/10.18203/issn.2455-4529.intjresdermatol20201597.

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<p>Congenital true leukonychia totalis is very rare hereditary condition characterized by milky white discoloration of all nails. It has mainly autosomal dominant mode of inheritance and autosomal recessive in few cases. It may be inherited or associated with systemic disease or idiopathic. It has been linked to the mutations in PLCD1 gene on chromosome 3p21.3-p22. Leukonychia totalis is associated with multiple systemic diseases such as congenital hyperparathyroidism, Hodgkin's lymphoma, Leopard syndrome, Epiphyseal dysplasia syndrome, Bart Pumphrey syndrome etc. we report a case of spo

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Scola, Rosana H., Carla Carducci, Vanise G. Amaral, et al. "A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia." Arquivos de Neuro-Psiquiatria 65, no. 4b (2007): 1224–27. http://dx.doi.org/10.1590/s0004-282x2007000700026.

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Dopa-responsive dystonia (DRD) is an inherited metabolic disorder now classified as DYT5 with two different biochemical defects: autosomal dominant GTP cyclohydrolase 1 (GCH1) deficiency or autosomal recessive tyrosine hydroxylase deficiency. We report the case of a 10-years-old girl with progressive generalized dystonia and gait disorder who presented dramatic response to levodopa. The phenylalanine to tyrosine ratio was significantly higher after phenylalanine loading test. This condition had two different heterozygous mutations in the GCH1 gene: the previously reported P23L mutation and a n

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Dikova, Milka, Mihaela Blazheva, Oleg Mladenov, and Darina Kachakova. "Multiple epiphyseal dysplasia with contribution of two cases with a mutation in the COMP gene." JOURNAL OF THE BULGARIAN ORTHOPAEDICS AND TRAUMA ASSOCIATION 61, no. 4 (2024): 202–12. http://dx.doi.org/10.58542/jbota.v61i4.154.

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Multiple pineal dysplasia (MED) is a heterogeneous group of inherited skeletal disorders characterized by abnormal development of the pineal glands. Patients with MED typically present with joint pain, stiffness, and a wobbly gait that often become symptomatic in childhood or early adolescence. Radiographic features include irregular, flattened epiphyses and delayed ossification. The condition can lead to the early onset of osteoarthritis. Mutations in six different genes can cause the disease, they can be inherited in either an autosomal dominant or autosomal recessive manner or occur as a “d

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Sundaresan, Renu. "A case of recurrent liver failure during febrile episode." IP International Journal of Medical Paediatrics and Oncology 8, no. 1 (2022): 42–45. http://dx.doi.org/10.18231/j.ijmpo.2022.010.

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Infantile liver failure syndrome 2 is a rare autosomal recessive genetic condition which manifests as recurrent acute liver failure episodes triggered by febrile illness. Clinical exome test which showed a homozygous sequence variant in the NBAS gene. The liver enzymes totally deranged during a febrile episopde and may make a complete recovery with conservative treatment like antipyretic therapy and other supportive measures.

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Peter, Ram, Priya Jose, and MNG Nair. "Siblings with Bardet Beidl Syndrome." Journal of Nepal Paediatric Society 33, no. 3 (2013): 236–38. http://dx.doi.org/10.3126/jnps.v33i3.8081.

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Bardet Biedl syndrome is an autosomal recessive condition affecting many parts of the body. Incidence of BBS is 1 in 100000. Its clinical features varies in person to person though from same family too. We are reporting two siblings with Bardet Beidl syndrome with different clinical presentation. DOI: http://dx.doi.org/10.3126/jnps.v33i3.8081 J. Nepal Paediatr. Soc. 2013;33(3):236-238

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Tirkey, Eva Rani, and Sujata Lakhtakia. "Usher Syndrome: A Rare Case." UP Journal of Ophthalmology 11, no. 03 (2023): 92–94. http://dx.doi.org/10.56692/upjo.2023110307.

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Usher syndrome is a rare heterogenous autosomal recessive genetic disorder with features of visual impairment due to retinitis pigmentosa and hearing loss. Other names for it include Hallgren syndrome, Usher-Hallgren syndrome, retinitis pigmentosa-dysacusis syndrome, and dystrophia retinae dysacusis syndrome.1,2 Usher syndrome represents a genetically diverse condition that involves both early onset sensorineural hearing loss and retinal pathology. While reports of disease prevalence vary, the condition has been estimated to occur in three in 100, 000 individuals.

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Das, Shreya, Charu Sharma, Meenakshi Gothwal, and Nayan Tada. "Whole exome sequencing, clinical exome or targeted gene panels: what to choose for suspected lethal skeletal dysplasia (short rib thoracic dysplasia type IV)." BMJ Case Reports 15, no. 9 (2022): e251118. http://dx.doi.org/10.1136/bcr-2022-251118.

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Lethal skeletal dysplasias (SDs) are a heterogeneous group of rare but important genetic disorders characterised by abnormal growth and development of bone and cartilage. The phenotypic variation of SD highlights the complex aetiology for this group of disorders. Short rib polydactyly syndrome (SRPS) types I–IV are a group of rare congenital autosomal recessive types of SD.We report a case of a non-consanguineous couple whose two successive pregnancies were diagnosed with multiple congenital anomalies in fetuses suggestive of lethal SD (likely SRPS type IV) at 24 and 19 weeks period of gestati

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Angreni, Frisca. "Case Report: Situs Inversus Totalis." Galore International Journal of Health Sciences and Research 9, no. 4 (2025): 84–89. https://doi.org/10.52403/gijhsr.20240408.

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Background: The formation of human body organs is not symmetrical. Even though the human heart begins its formation in the midline of the embryo, its formation will move to the left side of the thoracic cavity and looping will occur on the right. The spleen is found alone on the left side of the abdomen, the right liver lobe is formed predominantly on the right side of the abdomen, the colon will loop from right to left in the abdominal cavity, and the right lung has one more lobe than the left lung. situs inversus is a condition where the internal organs (viscera) occur in the thorax and abdo

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Cárdenas, Wilmer A., Andrew B. Conley, Shashwat Deepali Nagar, Diana L. Núñez-Ríos, I. King Jordan, and María Claudia Lattig. "Ancestral origins of TYR and OCA2 gene mutations in oculocutaneous albinism from two admixed populations in Colombia." PLOS ONE 19, no. 11 (2024): e0313777. http://dx.doi.org/10.1371/journal.pone.0313777.

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Autosomal recessive conditions are often associated with homozygous mutations showing common ancestral origins and are frequently linked to consanguinity. However, an increasing number of compound heterozygotes are found in diverse, admixed populations. Oculocutaneous albinism (OCA) is a recessive condition caused mainly by mutations in the TYR and OCA2 genes involved in skin pigmentation. We previously screened the TYR and OCA2 genes in Colombian OCA families, identifying both known and novel mutations. Affected family members were found to be either homozygous or compound heterozygous for th

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Marincheva, Victoria, and Iliyan Manev. "BOVINE LEUKOCYTE ADHESION DEFICIENCY SYNDROME (BLAD): A SYSTEMATIC REVIEW." Tradition and Modernity in Veterinary Medicine 8, no. 2 (2023): 98–106. https://doi.org/10.5281/zenodo.10350871.

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Bovine leukocyte adhesion deficiency syndrome (BLAD) is an autosomal recessive hereditary disease in Holstein–Friesian cattle. The extensive use of artificial insemination led to the rapid spread of the condition during the 1990s worldwide. Irrespective of the introduction of genetic testing programs there are still carriers found among breeding animals. Therefore the problem needs to be popularized as rare but economically rele-vant that should be distinguished from other common causes for calfhood maladies

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Dr., Swetha Sunkara, and Rekha S. Patil Dr. "Silent Copper Storm: A Case of Wilson Disease Presenting as Icterus in an 18-Year-Old Female." International Journal of Innovative Science and Research Technology (IJISRT) 10, no. 2 (2025): 1703–4. https://doi.org/10.5281/zenodo.14979294.

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Wilson disease is a rare autosomal recessive disorder characterized by impaired copper metabolism, leading to copper accumulation in various organs. This case report describes a 19-year-old female who presented with icterus as the initial manifestation of Wilson disease. Early recognition and treatment are crucial in preventing irreversible complications. This report highlights the diagnostic challenges and management strategies associated with this rare condition.

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Roberts, J. A., W. M. Tullett, J. StJ Thomas, D. Galloway, and B. H. R. Stack. "Bowel Adenocarcinoma in a Patient with Cystic Fibrosis." Scottish Medical Journal 31, no. 2 (1986): 109. http://dx.doi.org/10.1177/003693308603100210.

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Cystic fibrosis (CF) is an autosomal recessive condition affecting one in 2,000 live births in the UK. There are few reports of malignant tumours in this condition probably because, until recently, the majority died before the age of 30 years as a result of recurrent and chronic bronchopulmonary infection with impaired growth and development and resistance to infection due to pancreatic malabsorption. We describe an adult male with CF who died from an adenocarcinoma affecting the ileocaecal region of the bowel.

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