title: Ambiguous genitalia associated with skeletal abnormalities, cutis laxa, craniostenosis, psychomotor retardation, and facial abnormalities (SCARF syndrome).
abstract: We describe 2 male maternal first cousins, 7 years and 7 months old, with a previously unreported pattern of malformations including lax skin, joint hyperextensibility, umbilical and inguinal herniae, craniosynostosis, pectus carinatum, several abnormally shaped vertebrae, enamel hypoplasia and hypocalcification of the teeth, facial abnormalities and wide webbed neck, ambiguous genitalia, multiple nodular liver tumors, and mild psychomotor retardation. The occurrence of 2 male children related through their mothers suggests the possibility of X-linked recessive inheritance. It is proposed to call this disorder the SCARF syndrome (skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormalities).
authors.affiliation: Division of Medical Genetics, Montreal Children's Hospital, Quebec, Canada.
authors.forename: R
authors.initials: R
authors.lastname: Koppe
authors.forename: P
authors.initials: P
authors.lastname: Kaplan
authors.forename: A
authors.initials: A
authors.lastname: Hunter
authors.forename: B
authors.initials: B
authors.lastname: MacMurray
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities*; D003483:Cutis Laxa / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005808:Genes, Recessive; D005837:Genitalia, Male / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D013577:Syndrome