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: R L Ladda, J Zonana, J C Ramer, M J Mascari, P K Rogan
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 47 Issue 4 Pg. 550-5 (Sep 15 1993) ISSN: 0148-7299 [Print] United States
• PMID: 7504881 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Topics

• Abnormalities, Multiple (genetics)
• Cleft Lip (genetics)
• Cleft Palate (genetics)
• Contracture (congenital)
• Developmental Disabilities (genetics)
• Ectodermal Dysplasia (genetics)
• Female
• Genetic Counseling
• Genetic Linkage
• Humans
• Infant, Newborn
• Male
• Pedigree
• Syndrome
• X Chromosome