Sr. Phadke et al., Oral-Facial-Digital syndrome with acromelic short stature: a new variant -overlap with Ellis Van Creveld syndrome, CLIN DYSMOR, 8(3), 1999, pp. 185-188
The Oral-Facial-Digital syndromes (OFDS) are a heterogeneous group of disor
ders having common oral, facial, and digital malformations. Here, we report
a consanguineous family with a new variety of OFDS associated with acromel
ic short stature and genu valgum; the features overlapping with Ellis Van C
reveld syndrome. One of the sibs has urinary incontinence and growth hormon
e deficiency, which has not been reported earlier in any type of OFDS in th
e literature. Clin Dysmorphol 8: 185-188 (C) 1999 Lippincott Williams & Wil
kins.