title: Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: a distinct syndrome.
abstract: Brothers were affected with severe congenital contractures, multiple cutaneous manifestations of ectodermal dysplasia, cleft lip/palate, and psychomotor and growth impairment. High resolution prometaphase chromosomes were normal. Molecular studies of DNA markers, closely flanking the X-linked hypohidrotic ectodermal dysplasia locus, did not show evidence of a submicroscopic deletion from the Xq12-q13 region. The parents and a normal sister exhibited none of these findings. This constellation of anomalies appears to represent a unique AR or XLR syndrome.
authors.affiliation: Pennsylvania State University College of Medicine, Department of Pediatrics, Hershey 17033.
authors.forename: R L
authors.initials: RL
authors.lastname: Ladda
authors.forename: J
authors.initials: J
authors.lastname: Zonana
authors.forename: J C
authors.initials: JC
authors.lastname: Ramer
authors.forename: M J
authors.initials: MJ
authors.lastname: Mascari
authors.forename: P K
authors.initials: PK
authors.lastname: Rogan
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D003286:Contracture / Q000151:congenital; D002658:Developmental Disabilities / Q000235:genetics; D004476:Ectodermal Dysplasia / Q000235:genetics; D005260:Female; D005817:Genetic Counseling; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome