Retinal involvement in two unrelated patients with Myhre syndrome.
Eur J Med Genet
; 55(10): 541-7, 2012 Oct.
Article
em En
| MEDLINE
| ID: mdl-22683461
ABSTRACT
Myhre syndrome is a very rare condition described thirty years ago and related to mutations in the SMAD4 gene. It has been reported in 19 patients, including 13 males and 6 females before the recent finding of heterozygous mutations in the SMAD4 gene in 19 patients. It is characterized by mental retardation, short stature, muscle hypertrophy, limitation of joints movements, deafness, skeletal anomalies, and facial dysmorphism. Ophthalmological involvement includes hypermetropia and congenital cataract. We report here the new finding of retinal involvement including retinitis pigmentosa and maculopathy in two unrelated patients with Myhre syndrome. The patient with retinitis pigmentosa carried the p.I500T mutation in SMAD4, but no mutation was found in the patient with the maculopathy.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Deformidades Congênitas da Mão
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Retinose Pigmentar
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Criptorquidismo
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Transtornos do Crescimento
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Hipertrofia
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Artropatias
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Deficiência Intelectual
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
Limite:
Adult
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Child
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Female
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Humans
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Male
Idioma:
En
Revista:
Eur J Med Genet
Ano de publicação:
2012
Tipo de documento:
Article