Childhood overgrowth in patients with common NF1 microdeletions.
Eur J Hum Genet
; 13(7): 883-8, 2005 Jul.
Article
en En
| MEDLINE
| ID: mdl-15856072
ABSTRACT
While growth retardation and short stature are well-known features of patients with classical neurofibromatosis type 1 (NF1), we found advanced height growth and accelerated carpal bone age in patients with an NF1 microdeletion. Our analysis is based on growth data of 21 patients with common 1.4/1.2 Mb microdeletions, including three patients with a Weaver-like appearance. Overgrowth was most evident in preschool children (2-6 years, n=10, P=0.02). We conclude that childhood overgrowth is part of the phenotypic spectrum in patients with the common 1.4/1.2 Mb NF1 microdeletions and assume that the chromosomal region comprised by the microdeletions contains a gene whose haploinsufficiency causes overgrowth.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Estatura
/
Desarrollo Infantil
/
Neurofibromatosis 1
/
Eliminación de Secuencia
/
Neurofibromina 1
Tipo de estudio:
Etiology_studies
Límite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Eur J Hum Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2005
Tipo del documento:
Article
País de afiliación:
Alemania