Oralhyphen;Facial-Digital syndrome with acromelic short staturea new varianthyphen;overlap with Ellis Van Creveld syndrome

摘要

The Oral-Facial-Digital sndromes (OFDS) art 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 sindrome. 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.