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The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia. Further evidence for autosomal recessive inheritance.
Clin Genet. 1985 Dec; 28(6):516-20.CG

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.

Authors

Meinecke P
No affiliation info available
Fryns JP
No affiliation info available

MeSH

Abnormalities, MultipleConsanguinityDiaphragmFacial BonesFemaleFingersGenes, RecessiveHumansInfant, NewbornInfant, PrematurePregnancyPrenatal DiagnosisSkullSyndromeToes

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

4075561

Citation

Meinecke, P, and J P. Fryns. "The Fryns Syndrome: Diaphragmatic Defects, Craniofacial Dysmorphism, and Distal Digital Hypoplasia. Further Evidence for Autosomal Recessive Inheritance." Clinical Genetics, vol. 28, no. 6, 1985, pp. 516-20.
Meinecke P, Fryns JP. The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia. Further evidence for autosomal recessive inheritance. Clin Genet. 1985;28(6):516-20.
Meinecke, P., & Fryns, J. P. (1985). The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia. Further evidence for autosomal recessive inheritance. Clinical Genetics, 28(6), 516-20.
Meinecke P, Fryns JP. The Fryns Syndrome: Diaphragmatic Defects, Craniofacial Dysmorphism, and Distal Digital Hypoplasia. Further Evidence for Autosomal Recessive Inheritance. Clin Genet. 1985;28(6):516-20. PubMed PMID: 4075561.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia. Further evidence for autosomal recessive inheritance. AU - Meinecke,P, AU - Fryns,J P, PY - 1985/12/1/pubmed PY - 1985/12/1/medline PY - 1985/12/1/entrez SP - 516 EP - 20 JF - Clinical genetics JO - Clin Genet VL - 28 IS - 6 N2 - 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. SN - 0009-9163 UR - https://www.unboundmedicine.com/medline/citation/4075561/The_Fryns_syndrome:_diaphragmatic_defects_craniofacial_dysmorphism_and_distal_digital_hypoplasia__Further_evidence_for_autosomal_recessive_inheritance_ DB - PRIME DP - Unbound Medicine ER -