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[Fryns syndrome--pre and postnatal diagnosis].
Z Geburtshilfe Perinatol. 1991 Nov-Dec; 195(6):280-4.ZG

Abstract

Fryns, in 1979, delineated an autosomal recessive lethal syndrome of multiple congenital malformations, including diaphragmatic defect, craniofacial anomalies and distal limb hypoplasia. So far, 33 cases of Fryns syndrome have been published. We here report the fourth case of Fryns syndrome with consanguinous parents. It was the second child of healthy Turkish parents (first cousins). Pregnancy was complicated by massive polyhydramnios since week 32. Imperforate anus and diaphragmatic defect was detected by ultrasound. Spontaneous delivery occurred in week 37, the child died 5 hrs after birth. Major symptoms were a partial aplasia of the left diaphragm, coarse facies, absent nails of the fifth fingers and fifth toes, VSD, imperforate anus and cerebellar heterotopia. We discuss, in the context of our observation and of the reports in the literature, the possible heterogeneity of Fryns syndrome and the possibility of prenatal diagnosis.

Authors+Show Affiliations

Dix U
Institut für Humangenetik, Klinikum der J. W. Goethe-Universität.
Beudt U
No affiliation info available
Langenbeck U
No affiliation info available

MeSH

Abnormalities, MultipleAnal CanalChromosome AberrationsChromosome DisordersFacial BonesFoot Deformities, CongenitalHand Deformities, CongenitalHumansInfant, NewbornIntestinal AtresiaMaleSyndrome

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

ger

PubMed ID

1776320

Citation

Dix, U, et al. "[Fryns Syndrome--pre and Postnatal Diagnosis]." Zeitschrift Fur Geburtshilfe Und Perinatologie, vol. 195, no. 6, 1991, pp. 280-4.
Dix U, Beudt U, Langenbeck U. [Fryns syndrome--pre and postnatal diagnosis]. Z Geburtshilfe Perinatol. 1991;195(6):280-4.
Dix, U., Beudt, U., & Langenbeck, U. (1991). [Fryns syndrome--pre and postnatal diagnosis]. Zeitschrift Fur Geburtshilfe Und Perinatologie, 195(6), 280-4.
Dix U, Beudt U, Langenbeck U. [Fryns Syndrome--pre and Postnatal Diagnosis]. Z Geburtshilfe Perinatol. 1991 Nov-Dec;195(6):280-4. PubMed PMID: 1776320.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Fryns syndrome--pre and postnatal diagnosis]. AU - Dix,U, AU - Beudt,U, AU - Langenbeck,U, PY - 1991/11/1/pubmed PY - 1991/11/1/medline PY - 1991/11/1/entrez SP - 280 EP - 4 JF - Zeitschrift fur Geburtshilfe und Perinatologie JO - Z Geburtshilfe Perinatol VL - 195 IS - 6 N2 - Fryns, in 1979, delineated an autosomal recessive lethal syndrome of multiple congenital malformations, including diaphragmatic defect, craniofacial anomalies and distal limb hypoplasia. So far, 33 cases of Fryns syndrome have been published. We here report the fourth case of Fryns syndrome with consanguinous parents. It was the second child of healthy Turkish parents (first cousins). Pregnancy was complicated by massive polyhydramnios since week 32. Imperforate anus and diaphragmatic defect was detected by ultrasound. Spontaneous delivery occurred in week 37, the child died 5 hrs after birth. Major symptoms were a partial aplasia of the left diaphragm, coarse facies, absent nails of the fifth fingers and fifth toes, VSD, imperforate anus and cerebellar heterotopia. We discuss, in the context of our observation and of the reports in the literature, the possible heterogeneity of Fryns syndrome and the possibility of prenatal diagnosis. SN - 0300-967X UR - https://www.unboundmedicine.com/medline/citation/1776320/[Fryns_syndrome__pre_and_postnatal_diagnosis]_ DB - PRIME DP - Unbound Medicine ER -