Humeroradial Synostosis With Craniofacial Anomalies

See also humeroradial synostosis occurring as an autosomal dominant (143050) or autosomal recessive (236400) malformation.

Al-Hassnan and Teebi (2007) reported 2 sisters, born of consanguineous Saudi parents, who had a syndromic form of humeroradial synostosis. Both children had a distinctive facial appearance with a high, broad forehead, high frontal hairline, sparse scalp hair, hypertelorism, epicanthus inversus, depressed nasal bridge, and exotropia, as well as low-set, posteriorly rotated, and malformed ears and short neck. Skeletal survey revealed bilateral humeroradial synostosis and rhizomelic limb shortening. Both girls had a very large anterior fontanel, cranium bifidum occultum, and plagiocephaly, but no craniosynostosis. At ages 2 and 3 years, respectively, both had achieved developmental milestones with mild delay. After an extensive review of the literature, Al-Hassnan and Teebi (2007) concluded that their cases represent a previously unrecognized syndromic disorder.