Facio-auriculo-vertebral sequence in association with congenital hypoparathyroidism.
نویسندگان
چکیده
Although, Facio-auriculo-vertebral sequence (FAVS) is a well recognized condition with cranio-facial, ocular and vertebral anomalies, extreme variability of expression is characteristic. Association of cardiac, CNS, lungs, kidneys and limb defects are described. We report a neonatal case with FAVS in association with congenital hypoparathyroidism.
منابع مشابه
Clinical features of 149 patients with facio-auriculo-vertebral spectrum.
Facio-Auriculo-Vertebral (FAV) spectrum, also known as Goldenhar syndrome or first and second branchial arch syndrome, is a complex of mainly craniofacial and vertebral anomalies. Microtia is a principal malformation in this complex; it can be unilateral or bilateral. We performed an observational, retrospective, transverse descriptive clinical study, reviewing 149 records of patients with a di...
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OBJECTIVE To describe the central nervous system (CNS) alterations present in a sample of oculo-auriculo-vertebral spectrum (OAVS) patients, trying to correlate them with other clinical features. METHOD Seventeen patients with diagnosis of OAVS were evaluated. All presented radiological evaluation of the CNS, normal GTG-Banding karyotype and clinical features involving at least two from the f...
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*Senior Resident, **Associate Professor, ***Professor, Department of Ophthalmology, T.N.M.C. and B.Y.L. Nair Hospital, Mumbai. Abstract Goldenhar syndrome is a morphogenetic anomaly involving the 1st and 2nd branchial arches. It is also known as the oculo-auriculo-vertebral syndrome because of the association of eye anomalies with or without vertebral and ear anomalies. It has been also Goldenh...
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ورودعنوان ژورنال:
- Indian pediatrics
دوره 49 8 شماره
صفحات -
تاریخ انتشار 2012