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Indian J Hum Genet ; 2011 Jan; 17(1): 26-28
Article in English | IMSEAR | ID: sea-138928

ABSTRACT

Ectrodactyly, ectodermal dysplasia and cleft palate syndrome is a rare autosomal dominant multiple congenital anomaly syndrome with variable expressivity and reduced penetration. The cardinal features are cleft palate/lip, lobster hand deformity, sparse hypopigmented hair, dry scaly skin, and lacrimal and urogenital anomalies. A neonate presented to us with typical features, his mother and other two siblings were also affected.


Subject(s)
Abnormalities, Multiple/etiology , Adult , Child , Cleft Lip/epidemiology , Cleft Lip/genetics , Cleft Palate/epidemiology , Cleft Palate/genetics , Cluster Analysis , Ectodermal Dysplasia/epidemiology , /genetics , Foot Deformities, Congenital/epidemiology , Foot Deformities, Congenital/genetics , Hand Deformities, Congenital/epidemiology , Hand Deformities, Congenital/genetics , Fingers/abnormalities , Hair Color , Humans , Ichthyosis/etiology , Infant, Newborn , Lacrimal Apparatus/abnormalities , Pigmentation Disorders/etiology , Siblings , Syndrome , Urogenital Abnormalities/etiology
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