Phadke, Shubha R. ; Pahi, Jagannath ; Pandey, Amita ; Agarwal, S. S. (1999) Oral-Facial-Digital syndrome with acromelic short stature: a new variant-overlap with Ellis Van Creveld syndrome Clinical Dysmorphology, 8 (3). pp. 185-188. ISSN 0962-8827
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Abstract
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.
| Item Type: | Article |
|---|---|
| Source: | Copyright of this article belongs to Lippincott Williams and Wilkins. |
| Keywords: | Oral-Facial-Digital Syndrome; Acromelic Short Stature; Ellis Nan C'reveld Syndrome; Urinary Incontinence |
| ID Code: | 223 |
| Deposited On: | 17 Sep 2010 09:18 |
| Last Modified: | 12 May 2011 03:43 |
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