منابع مشابه
Association of syndactyly, ectodermal dysplasia, and cleft lip and palate: report of two sibs from Turkey.
Two Turkish sibs, products of a second cousin marriage, with tetramelic syndactyly, ectodermal dysplasia, cleft lip and palate, renal anomalies, and mental retardation are reported. Similarities between these two brothers and previously reported cases and their mode of transmission are discussed.
متن کاملEctrodactary, ectodermal dysplasia, and cleft lip-palate syndrome.
The EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip-palate) is a rare disorder inherited as an autosomal dominant trait or can occur sporadically. We describe a case of this syndrome with chronic ocular surface disorder secondary to abnormalities of ocular adnexia.
متن کاملEctrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome: A case report of “Incomplete syndrome”
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) is a rare syndrome having ectrodactyly, ectodermal dysplasia, and cleft lip/palate. So far, very few cases have been reported in literature. However, we report a case of incomplete EEC syndrome having ectrodactyly and cleft lip and palate with absence of signs of ectodermal dysplasia with no other systemic anomalies. Other feature n...
متن کاملCongenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: a distinct syndrome.
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 Xq...
متن کاملCleft Lip and Cleft Palate
Cleft lip (cheiloschisis) and cleft palate (palatoschisis) can occur individual or together. Individuals with CLP may experience problems with feeding, speaking, hearing and social integration that can be corrected to varying degrees by surgery, dental treatment, speech therapy and psychological intervention. In India over 35,000 babies per year are affected. This review signifies the etiologic...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1988
ISSN: 1468-6244
DOI: 10.1136/jmg.25.7.503