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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866
EISSN: 0971-6866
Vol. 17, No. 1, 2011, pp. 26-28
Bioline Code: hg11007
Full paper language: English
Document type: Case Report
Document available free of charge

Indian Journal of Human Genetics, Vol. 17, No. 1, 2011, pp. 26-28

 en Familial clustering of a rare syndrome
Nadkarni, Jayashree; Ganesh, Hari & Dwivedi, Rashmi


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.

EEC, ectrodactyly, variable presentations

© Copyright 2011 Indian Journal of Human Genetics.
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