Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: A distinct syndrome

R. L. Ladda, J. Zonana, J. C. Ramer, M. J. Mascari, P. K. Rogan

Research output: Contribution to journalArticle

8 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)550-555
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume47
Issue number4
DOIs
StatePublished - 1993

Keywords

  • cleft lip
  • cleft palate
  • congenital contractures
  • ectodermal dysplasia
  • retardation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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