Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease

Clinical Features

Mehes (1993) described a Hungarian brother and sister, aged 4 years and 9 months and 3 years and 5 months, respectively, with delayed speech development, facial asymmetry, strabismus, and a transverse earlobe crease like that seen in Beckwith-Wiedemann syndrome (130650). The mother had the same features. The familial pattern was compatible with either autosomal dominant or X-linked dominant inheritance.

Hollody and Kampos (2005) reported 4 unrelated Hungarian patients, aged 7 to 10 years, with features similar to those of the patients reported by Mehes (1993), including delayed speech development, mild facial asymmetry, and transverse earlobe creases. Age at first word spoken ranged from 2.5 to 3 years in 3 patients; the fourth said a few words at age 18 months and simple sentences at age 4 years. Two children had an IQ of 67, 1 had an IQ of 92, and 1 had an IQ of 91 with severe learning disability. Common facial features included unilateral narrow palpebral fissure, ptosis, strabismus, long philtrum, and low set ears. Radiographic studies of 1 patient showed a unilateral thin zygomatic arch and unilateral decreased orbital diameter. One affected boy had a similarly affected older brother and 1 affected girl had a mother and maternal uncle with a history of delayed speech development and lisp.