Orofaciodigital syndrome type-VI (Varadi-Papp syndrome) with several Y-shaped metacarpals.
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Date
2012-09
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Abstract
Orofaciodigital syndrome type-VI (Varadi-Papp Syndrome) is a rare autosomal recessive disorder characterized by variable orofacial anomalies, central polydactyly of the hands, and cerebellar dysgenesis (mainly hypoplasia or aplasia of vermis, rarely Dandy-Waker anomaly). Here a case of Varadi-Papp syndrome with recurrent episodic tachypnea-apnea, minimal orofacial features, several Y-shaped metacarpals, and cerebellar vermis hypoplasia, diagnosed in the neonatal age, is reported for the first time in Indian literature. The importance of early accurate diagnosis of this rare disease for proper genetic counseling and prenatal case detection of pregnancy at risk is also emphasized as the prognosis is poor in almost all cases.
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Keywords
Indian, neonatal, orofaciodigital syndrome type-VI, Varadi-Papp syndrome
Citation
Mahato Pulak R, Pandey Shashi B. Orofaciodigital syndrome type-VI (Varadi-Papp syndrome) with several Y-shaped metacarpals. Indian Journal of Human Genetics. 2012 Sept; 18(3): 376-378.