CASE REPORT |
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Year : 2011 | Volume
: 17
| Issue : 1 | Page : 26-28 |
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Familial clustering of a rare syndrome
Jayashree Nadkarni, Hari Ganesh, Rashmi Dwivedi
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 India
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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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