Publication: The Coffin-Siris syndrome
The Coffin-Siris syndrome
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Schinzel, A. (1979). The Coffin-Siris syndrome. Acta Paediatrica, 68, 449–452. https://doi.org/10.1111/j.1651-2227.1979.tb05037.x
Abstract
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Abstract
A 14-month-old female with the Coffin-Siris syndrome is described. Typical features included underweight at birth, growth retardation, microcephaly, profound mental retardation, severe hypotonia with lax joints, feeding difficulties and frequent respiratory tract infections; sparce scalp hair, small nose, epicanthic folds, a prominent philtrum and full lips; a congenital heart defect; hypoplasia or aplasia of the distal phalanges of digits 2--5 and the corresponding nails, especially of the fifth fingers and toes, and aplasia of the m
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- Schinzel, Albert
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Citations
Schinzel, A. (1979). The Coffin-Siris syndrome. Acta Paediatrica, 68, 449–452. https://doi.org/10.1111/j.1651-2227.1979.tb05037.x
