Oral-facial-digital syndrome with acromelic short stature: a new variant--overlap with Ellis Van Creveld syndrome.
The Oral-Facial-Digital syndromes (OFDS) are a heterogeneous group of disorders having common oral, facial, and digital malformations. Here, we report a consanguineous family with a new variety of OFDS associated with acromelic short stature and genu valgum; the features overlapping with Ellis Van Creveld syndrome. One of the sibs has urinary incontinence and growth hormone deficiency, which has not been reported earlier in any type of OFDS in the literature.
Phadke
S R
SR
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India. shubha@sgpgi.ac.in
Pahi
J
J
Pandey
A
A
Agarwal
S S
SS
D001827:Body Height; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008297:Male; D009056:Mouth Abnormalities / Q000473:pathology*; D017689:Polydactyly / Q000000981:diagnostic imaging / Q000473:pathology*; D011859:Radiography; D013577:Syndrome; D014549:Urinary Incontinence / Q000473:pathology