Another Arab patient with overlap of Váradi-Papp/Opitz trigonocephaly syndromes?
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.
Sabry
M A
MA
Medical Genetics Centre, Maternity Hospital, Kuwait.
al Saleh
Q
Q
Farah
S
S
Obenbergerova
D
D
Simeonov
S
S
al Awadi
S A
SA
Farag
T I
TI
D018912:Arabs; D019465:Craniofacial Abnormalities / Q000473:pathology*; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D014057:Tomography, X-Ray Computed