X-linked frontometaphyseal dysplasia with severe scoliosis and spinal cord compromise in an Indian boy.
Am J Med Genet A
; 185(5): 1550-1553, 2021 05.
Article
en En
| MEDLINE
| ID: mdl-33615695
ABSTRACT
Frontometaphyseal dysplasia (FMD) is a rare genetic disorder with morphological abnormalities of the skeletal and extra skeletal tissues. It belongs to the group of otopalatodigital spectrum disorders. Here we report a 12-year-old boy from India with features of frontometaphyseal dysplasia who had severe scoliosis with neurological complications due to spinal cord compromise. Clinical examination of his mother also revealed mild features of FMD. The manuscript highlights the clinical presentation of the disorder and discusses the clinical heterogeneity of the otopalatodigital spectrum disorders.
Palabras clave
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Osteocondrodisplasias
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Escoliosis
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Anomalías Múltiples
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Enfermedades Genéticas Ligadas al Cromosoma X
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Frente
Tipo de estudio:
Diagnostic_studies
País/Región como asunto:
Asia
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2021
Tipo del documento:
Article