Oral-Facial-Digital syndrome with acromelic short stature: a new variant -overlap with Ellis Van Creveld syndrome

Citation
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
Citations number
10
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology
Journal title
CLINICAL DYSMORPHOLOGY
ISSN journal
09628827 → ACNP
Volume
8
Issue
3
Year of publication
1999
Pages
185 - 188
Database
ISI
SICI code
0962-8827(199907)8:3<185:OSWASS>2.0.ZU;2-C
Abstract
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.