We describe two sisters born to a consanguineous Arab Muslim couple in northern Israel. Among other clinical findings, both have moderate mental retardation, short stature, "leonine" facies, hypertelorism, broad nasal root, long philtrum, fronto-nasal dysplasia, pigmented lesions of the irises, brachy-clinodactily, apparantly low-set posteriorly angulated ears and a webbed neck. This association of anomalies defines a new syndrome. Parental consanguinity and familial occurrence in two sisters suggest autosomal recessive inheritance.
- Autosomal recessive inheritance
- Fronto-nasal dysplasia
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health