Branchial Arch Syndrome, X-Linked

Toriello et al. (1985) reported 2 brothers and their male maternal first cousin with branchial arch defects and other anomalies. All 3 showed microcephaly, downslanting palpebral fissures, highly arched palate, apparently low-set, protruding ears, bilateral hearing loss, slightly webbed neck, somewhat short stature, and learning disability. Cryptorchidism was present in 2 and subvalvular pulmonic stenosis and body asymmetry in 1.

Zelante et al. (1993) reported another patient with this syndrome.

Puri and Phadke (2002) reported a boy with mild mandibulofacial dysostosis, growth retardation with microcephaly, bilateral hearing loss, thoracic deformity with a cardiac valvular lesion, and bilateral cryptorchidism. The authors considered the patient to have the Toriello type of mandibulofacial dysostosis with some additional features, including pectus excavatum. They suggested that the 2 sibs reported by Delb et al. (2001) also had the Toriello type of MFD.