Indian Journal of Human Genetics
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Year : 2011  |  Volume : 17  |  Issue : 1  |  Page : 26-28

Familial clustering of a rare syndrome

Department of Pediatrics, Gandhi Medical College and Associated Kamla Nehru Hospital, Bhopal - 462 016, M.P, India

Correspondence Address:
Jayashree Nadkarni
3rd Floor, Kamla Nehru Hospital, Bhopal - 462 016, M.P
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0971-6866.82189

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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.

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