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Clin Dysmorphol. 2004 Jul;13(3):179-82.

A case of Fryns syndrome without diaphragmatic hernia and review of the literature.

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Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK.


We report on a child with Fryns syndrome who showed a characteristic coarse hirsute facial appearance, bilateral cleft lip and palate, cardiac and renal anomalies, dilated bowel and distal limb abnormalities. However, diaphragmatic hernia, which is considered a cardinal feature in this condition, was absent in our patient. The parents were consanguineous supporting autosomal recessive inheritance.

[Indexed for MEDLINE]

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