Alternative titles; symbolsSKELETAL ABNORMALITIES, CUTIS LAXA, CRANIOSTENOSIS, AMBIGUOUS GENITALIA, RETARDATION, AND FACIAL - ABNORMALITIES▼ Clinical FeaturesKop...
Alternative titles; symbols
▼ Clinical Features
Koppe et al. (1989) described 2 male maternal first cousins with an apparently 'new' syndrome including lax skin, joint hyperextensibility, umbilical and inguinal hernias, craniosynostosis, pectus carinatum, abnormally shaped vertebrae, enamel hypoplasia with hypocalcification of the teeth, facial abnormalities, wide webbed neck, ambiguous genitalia, multiple nodular liver tumors, and mild psychomotor retardation. Some of the features suggest those of the Lenz-Majewski hyperostotic dwarfism syndrome (151050).