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Fryns syndrome phenotype and trisomy 22

✍ Scribed by Ladonne, Jean-Marie; Gaillard, Dominique; Carré-Pigeon, Frédérique; Gabriel, René

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 10 KB
Volume: 61
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19960102)61:1<68::aid-ajmg13>3.0.co;2-u

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✦ Synopsis

Trisomy 22 was detected in a 32-week-old fetus born to an overweight mother with hypertension. Severe intrauterine growth retardation was associated with phenotypic manifestations of Fryns syndrome: diaphragmatic hernia, facial defects, and nail hypoplasia with short distal fifth phalanges. This is the second report of congenital diaphragmatic hernia in trisomy 22. This case demonstrates the importance of karyotyping malformed fetuses or newborns, even if a nonchromosome syndrome seems identifiable on clinical grounds. To date, at least 10 cases of Fryns syndrome have been reported without chromosome analysis.

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