A syndrome of short stature, mental retardation, facial dysmorphism, short webbed neck, skin changes and congenital heart disease.
We report four sibs from a consanguineous Arab Bedouin family with short stature, mental retardation, a peculiar face, a short webbed neck, skin changes and congenital heart defects. We suggest that the constellation of abnormalities in these children could represent a newly recognized syndrome.
al-Gazali
L I
LI
Department of Paediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al Ain, UAE.
Aziz
S A
SA
Salem
F
F
D001827:Body Height; D002648:Child; D002675:Child, Preschool; D019066:Facies; D005260:Female; D006330:Heart Defects, Congenital / Q000473:pathology*; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology*; D009333:Neck / Q000002:abnormalities*; D012868:Skin Abnormalities; D013577:Syndrome