title: The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia. Further evidence for autosomal recessive inheritance.
abstract: A further example of the Fryns syndrome is reported. The female infant presented a malformation syndrome with coarse facies including cleft lip and palate, distal limb hypoplasia, a diaphragmatic defect, and excessive body hair, most pronounced on the face. She died 5 days after birth. Consanguinity in the parents supports the hypothesis of autosomal recessive inheritance. Considering the severity of the internal malformations and the poor prognosis of this syndrome, prenatal ultrasound diagnosis in the 2nd trimester of pregnancies at risk should be attempted.
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D003241:Consanguinity; D003964:Diaphragm / Q000002:abnormalities; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D014034:Toes / Q000002:abnormalities