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  • Title: Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: a distinct syndrome.
    Author: Ladda RL, Zonana J, Ramer JC, Mascari MJ, Rogan PK.
    Journal: Am J Med Genet; 1993 Sep 15; 47(4):550-5. PubMed ID: 7504881.
    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.
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