Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation

Clinical Features

Megarbane et al. (1998) reported 4 sibs, 3 girls and 1 boy, born to first-cousin Lebanese parents. All 4 children had microcephaly, hearing impairment, scoliosis, dislocated elbows, bowed tibias, and mental retardation. Two of the girls had bilateral cataracts. The male sib had radiographic abnormalities of the hand, including triquetrum-lunate fusion, synostosis between the scaphoid and cuneiform, and shortening of the fourth metacarpal of the left hand. Megarbane et al. (1998) differentiated this condition from otopalatodigital syndrome (311300) by the lack of characteristic facies and clefting, and by the different mode of inheritance. They also ruled out a number of other less similar conditions, including Larsen syndrome (245600), Martsolf syndrome (212720), dyschondrosteosis (127300), and frontometaphyseal dysplasia (305620). The authors proposed that the more severe features seen in the affected male might be the consequence of sex-limiting expressivity. They also concluded that the presence of 4 affected individuals in an otherwise unaffected consanguineous family suggested recessive inheritance.