Academic literature on the topic 'Hypoplastic ribs'

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Journal articles on the topic "Hypoplastic ribs"

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Fuchs, Gabriela E., Mohnish Suri, Anthony Dux, Emily V. Craft, Pradeep C. Vasudevan, and George A. Tanteles. "Hypertelorism, radial ray defects, dextrocardia, hypoplastic ribs and renal anomaly." Clinical Dysmorphology 21, no. 3 (2012): 157–61. http://dx.doi.org/10.1097/mcd.0b013e328354e8cc.

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Sandhya, Jalagam, Nareddy Anusha, Josthsna Adimulam, and Deepthi Seggam. "An Uncomplicated Method of Diagnostic Approach to Type 2 Klippel Feil Syndrome and Review." International Journal of Pharmaceutical and Clinical Research 16, no. 12 (2024): 276–79. https://doi.org/10.5281/zenodo.14592478.

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Klippel Feil Syndrome is a very rare disease with three different types of presentations. Most of the cases commonly show the clinical triad of short neck, low posterior hair line, and limited neck movements. But less than 50% of all patients show all these three clinical features. We are reporting a very rare case of 12-year-old male patient presenting with neck and body pains for duration of two months. Whole spine CT revealed complete assimilation of anterior & posterior arches of C1 vertebra with clivus and occipital bones, defect at left posterior arch of C1, Aplastic right posterior
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Sabri, Shahbaaz A., Renzo A. Laynes, Clayton J. Hoffman, et al. "Implications of lumbosacral transitional anatomy on vertebral numbering: evaluation of 3147 adult full-length spine radiographs." Neurosurgical Focus 58, no. 6 (2025): E13. https://doi.org/10.3171/2025.3.focus2555.

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OBJECTIVE When evaluating anomalous vertebral anatomy, limited consensus exists on how to best label vertebrae, leading to numbering discrepancies between radiologists and surgeons. Errors in vertebral numbering can have devastating implications for patients, especially when intraoperative numbering errors occur. Analyzing whole-spine radiographs and identifying patterns of transitional anatomy relative to vertebral numbering could allow for a consistent numbering method. METHODS This single-institution cross-sectional study included patients older than 18 years of age who underwent full-lengt
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Meshram, Rajkumar M., Kanchan Ambatkar, and Renuka Gite. "Campomelic dysplasia: a case report." International Journal of Contemporary Pediatrics 11, no. 9 (2024): 1324–27. http://dx.doi.org/10.18203/2349-3291.ijcp20242352.

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Campomelic dysplasia is a rare, lethal, and autosomal dominant inherited disorder with reversal of sex in genotypic male in two third cases. An eight-month-old phenotypic female infant was admitted with respiratory distress and failure to thrive. She had facial dysmorphism, cleft in soft palate, pectus excavatum deformity, bowing of lower limbs, dimpling at right knee area and bilateral congenital talipes equinovarus deformity. Radiographs shows 11 pairs of ribs, hypoplastic scapula, bowing of bilateral tibia and hypoplastic bilateral fibula. Karyotyping was 46XYchromosome and whole exome sequ
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Lantos, John. "Seeking Justice for Priscilla." Cambridge Quarterly of Healthcare Ethics 5, no. 4 (1996): 485–92. http://dx.doi.org/10.1017/s0963180100007374.

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I am currently caring for a child named Priscilla who is ventilator-dependent and whose care confronted me with questions of justice. Priscilla was born at the County Hospital after a normal pregnancy to a 17-year-old single mother. At birth, she was noted to have some dysmorphic features: widely spaced eyes, low-set ears, and a cleft palate. Her chest X-ray showed hypoplastic ribs and scapulae. Her chromosome studies were normal. Eventually, a diagnosis of a rare dwarfing syndrome campomelic dysplasia – was made.
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Pasupathy, M., Vasant Radhakrishnan, Hirji Sorab Adenwalla, and Puthucode V. Narayanan. "A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction." Indian Journal of Plastic Surgery 49, no. 02 (2016): 253–57. http://dx.doi.org/10.4103/0970-0358.191310.

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ABSTRACTAcampomelic campomelic dysplasia (CD) is a type of CD (CD; OMIM #114290), a rare form of congenital short-limbed dwarfism and is due to mutations in SOX9 gene family. Characteristic phenotypes of CD include bowing of the lower limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, cleft palate and micrognathia. The bending of the long bones is not an obligatory feature and is absent in about 10% of cases, referred to as acampomelic CD. A child previously diagnosed with acampomelic CD was brought to our outpat
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Mahajan, Parag Suresh, Islam Ali Hasan, Nazeer Ahamad, and Nawal M. Al Moosawi. "A Unique Case of Left Second Supernumerary and Left Third Bifid Intrathoracic Ribs with Block Vertebrae and Hypoplastic Left Lung." Case Reports in Radiology 2013 (2013): 1–4. http://dx.doi.org/10.1155/2013/620120.

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Intrathoracic rib (IR) is a very rare anomaly in which a normal, an accessory, or a bifid rib lies within the chest cavity and may originate from a vertebra or a rib. It is more commonly present on the right side, and sometimes it may be associated with vertebral anomalies. Only 50 cases have been reported to date in the literature. In most cases, the IR is an isolated finding; it is incidentally detected and is asymptomatic. The IR can be easily missed on a chest radiograph and can be mistaken initially for a pleural lesion, lung consolidation, other peripheral lung parenchymal lesions, or a
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Happle, Rudolf, and Sigrid Tinschert. "Segmentally Arranged Basaloid Follicular Hamartomas with Osseous, Dental and Cerebral Anomalies: A Distinct Syndrome." Acta Dermato-Venereologica 88, no. 4 (2008): 382–87. http://dx.doi.org/10.2340/00015555-0495.

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A 39-year-old man presented with multiple basaloid follicular hamartomas involving the right side of his body in a systematized pattern following Blaschko’s lines. His right leg was 22.5 cm shorter than the left, and rudimentary pre-axial polydactyly was noted on the left hand and the right foot. The teeth of the right maxilla were hypoplastic. DNA analysis of blood lymphocytes and fibroblasts from lesional skin did not reveal any mutation in the Patched gene. On account of this case and of 8 similar cases found in th e literature, the spectrum of a distinct syndrome is delineated. Ipsilateral
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Drebov, Rosen, Atanas Katsarov, Emiliyan Gagov, Nia Atanasova, Zlatin Penev, and Alexander Iliev. "Is Asphyxiating Thoracic Dystrophy (Jeune's Syndrome) Deadly and Should We Insist on Treating It? Reconstructive Surgery “On Demand”." Surgery Journal 03, no. 01 (2017): e17-e22. http://dx.doi.org/10.1055/s-0037-1598043.

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Our aim is to present the treatment of one of the skeletal manifestations of Jeune's syndrome (JS), the hypoplastic chest, which can result in thoracic insufficiency syndrome and present “on-demand” stage surgical technique using mandible locking plate system for the fixation of ribs. The diagnosis “Jeune's syndrome” was presented clinically in a 3-month-old girl from a family in which the first child died of JS at the age of 18 months. After close follow-up for several months and preoperative planning, we decided to make reconstructive chest operation with atypical use of a double-angled mand
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Agrawal, Priti, Rishi Agrawal, and Anandi Lobo. "Thanatophoric dysplasia- a rare cause of stillbirth and perinatal mortality: a case report." International Journal of Reproduction, Contraception, Obstetrics and Gynecology 10, no. 3 (2021): 1232. http://dx.doi.org/10.18203/2320-1770.ijrcog20210772.

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Lethal skeletal dysplasia is estimated to occur in 0.95 per 10,000 deliveries. Thanatophoric dysplasia affects about 1in 25000 to 50000 births. The term thanatophoric is Greek word for “death bearing”. Children with this condition are usually stillborn or die shortly after birth from respiratory failure. We report a case of LSD (Thanatophoric dysplasia), in an unbooked patient where previous two children and couple were absolutely normal. Our patient, 31 years old, unbooked case presented with history of amenorrhea 8 months and unable to perceive fetal movements. Her husband’s age was 33 years
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Book chapters on the topic "Hypoplastic ribs"

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Gorlin, Robert J., M. Michael Cohen, and Raoul C. M. Hennekam. "Syndromes with Craniosynostosis: Miscellaneous Syndromes." In Syndromes of the Head and Neck. Oxford University PressNew York, NY, 2001. http://dx.doi.org/10.1093/oso/9780195118612.003.0015.

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Abstract Wells et al (277), in 1990, described a male infant with craniosynostosis, acrobrachycephaly, syndactyly of all extremities, midface hypoplasia, parrot-beak nose, exophthalmos, hypertelorism, exotropia, huge pinnae, and short upper lip. The hands and feet resembled those of Apert syndrome. In addition, there were block thoracic vertebrae with progressive loss of intervertebral discs and platyspondyly. The thin posterior ribs had a fan-like configuration. Acrocraniofacial dysostosis
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