Another Arab patient with overlap of Váradi-Papp/Opitz trigonocephaly syndromes?

Autor:	M A, Sabry, Q, al Saleh, S, Farah, D, Obenbergerova, S, Simeonov, S A, al Awadi, T I, Farag
Rok vydání:	1997
Předmět:	Craniofacial Abnormalities Fingers Male Phenotype Humans Infant Tomography X-Ray Computed Arabs
Zdroj:	American journal of medical genetics. 68(1)
ISSN:	0148-7299
Popis:	We describe a Bedouin boy with multiple congenital anomalies/mental retardation (MCA/MR). He has frontal bossing, ridged metopic suture, bilateral ptosis, right squint, depressed nasal bridge, small nose, anteverted nostrils, lobulated tongue, polydactyly of both hands, microphallus, hypoplastic scrotum, microtestes, dysgenesis of corpus callosum, and a Dandy-Walker variant. This phenotype overlaps both the Varadi-Papp syndrome (OFD VI) and Opitz trigonocephaly (C syndrome). This phenotypic overlap is discussed in light of the concept of splitting and lumping in genetic diseases.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::cc70d2617be89bb59ab8ffd40fe90836 https://pubmed.ncbi.nlm.nih.gov/8986276 Zobrazit plný text záznamu Plný text