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Title: A case of Fryns syndrome without diaphragmatic hernia and review of the literature. Author: Vasudevan PC, Stewart H. Journal: Clin Dysmorphol; 2004 Jul; 13(3):179-182. PubMed ID: 15194956. Abstract: 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.[Abstract] [Full Text] [Related] [New Search]