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
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.