Familial clustering of a rare syndrome.

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ijhg2011v17n1p26.pdf (436.54 KB)
Date
2011-01
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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.
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EEC, ectrodactyly, variable presentations
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Nadkarni Jayashree, Ganesh Hari, Dwivedi Rashmi. Familial clustering of a rare syndrome. Indian Journal of Human Genetics. 2011 Jan; 17(1): 26-28.
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https://imsear.searo.who.int/handle/123456789/138928
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Indian Journal of Human Genetics