A case of Fryns syndrome without diaphragmatic hernia and review of the literature.
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.
Vasudevan
Pradeep C
PC
Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK Department of Clinical Genetics, Churchill Hospital, Oxford, UK.
Stewart
Helen
H
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002971:Cleft Lip / Q000150:complications / Q000175:diagnosis*; D002972:Cleft Palate / Q000150:complications / Q000175:diagnosis*; D003241:Consanguinity; D019066:Facies; D006330:Heart Defects, Congenital / Q000150:complications / Q000175:diagnosis; D006548:Hernia, Diaphragmatic / Q000150:complications / Q000175:diagnosis; D006628:Hirsutism / Q000150:complications / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D007668:Kidney / Q000002:abnormalities; D017880:Limb Deformities, Congenital / Q000150:complications / Q000175:diagnosis; D008297:Male; D013577:Syndrome