ANOTHER ARAB PATIENT WITH OVERLAP OF VARADI-PAPP OPITZ TRIGONOCEPHALYSYNDROMES/

Citation
Ma. Sabry et al., ANOTHER ARAB PATIENT WITH OVERLAP OF VARADI-PAPP OPITZ TRIGONOCEPHALYSYNDROMES/, American journal of medical genetics, 68(1), 1997, pp. 54-57
Citations number
9
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
68
Issue
1
Year of publication
1997
Pages
54 - 57
Database
ISI
SICI code
0148-7299(1997)68:1<54:AAPWOO>2.0.ZU;2-8
Abstract
We describe a Bedouin boy with multiple congenital anomalies/mental re tardation (MCA/MR), He has frontal bossing, ridged metopic suture, bil ateral ptosis, right squint, depressed nasal bridge, small nose, antev erted nostrils, lobulated tongue, polydactyly of both hands, microphal lus, hypoplastic scrotum, microtestes, dysgenesis of corpus callosum, and a Dandy-Walker variant, This phenotype overlaps both the Varadi-Pa pp syndrome (OFD VI) and Opitz trigonocephaly (C syndrome). This pheno typic overlap is discussed in light of the concept of splitting and lu mping in genetic diseases. (C) 1997 Wiley-Liss, Inc.