Fryns syndrome phenotype and trisomy 22.
Am J Med Genet
; 61(1): 68-70, 1996 Jan 02.
Article
en En
| MEDLINE
| ID: mdl-8741922
ABSTRACT
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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Base de datos:
MEDLINE
Asunto principal:
Trisomía
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Cromosomas Humanos Par 22
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Cara
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Retardo del Crecimiento Fetal
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Dedos
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Hernia Diafragmática
/
Uñas Malformadas
Tipo de estudio:
Prognostic_studies
Idioma:
En
Revista:
Am J Med Genet
Año:
1996
Tipo del documento:
Article