Focal dermal hypoplasia due to a novel mutation in a boy with Klinefelter syndrome.
Pediatr Dermatol
; 30(4): 476-9, 2013.
Article
en En
| MEDLINE
| ID: mdl-23131169
ABSTRACT
A boy was born with multiple anomalies, including right hemifacial microsomia, eye abnormalities, syndactyly, right hand ectrodactyly, hypoplastic nails, omphalocele, bladder exstrophy, renal dilatation, and splayed symphysis pubis. The skin was also abnormal, with atrophic skin plaques and areas of telangiectasia along the lines of Blaschko. The karyotype was 47,XXY (Klinefelter syndrome). He was found to have a heterozygous mutation in the PORCN gene. He exhibited the classical features of focal dermal hypoplasia. Fewer than 15% of reported cases are male when it is thought to be due to postzygotic mutation and thus mosaic. This is the first reported boy to have heterozygous mutation for Goltz syndrome who survived due to the extra X chromosome.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
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Hipoplasia Dérmica Focal
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Deformidades Congénitas de las Extremidades
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Síndrome de Klinefelter
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Proteínas de la Membrana
Límite:
Humans
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Infant
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Male
Idioma:
En
Revista:
Pediatr Dermatol
Año:
2013
Tipo del documento:
Article
País de afiliación:
Nueva Zelanda