New form of bone dysplasia with multiple fractures associated with monosomy X.
Am J Med Genet
; 66(2): 163-8, 1996 Dec 11.
Article
em En
| MEDLINE
| ID: mdl-8958323
ABSTRACT
We report on the clinical, radiologic, and pathologic findings in a 20-week-old fetus with monosomy X and severe hydrops associated with fetal dwarfism. The fetus presented with osteoporosis, bent bones, multiple fractures, and distinctive symmetric submetaphyseal transverse bone interruptions or pseudofractures. We excluded by radiologic and histopathologic examination the diagnoses of osteogenesis imperfecta, hypophosphatasia, campomelic dysplasia, achondrogenesis, hypochondrogenesis, and other types of bone dysplasia. To our knowledge, this is a previously undescribed bone dysplasia associated with monosomy X. This bone dysplasia may be inherited as an X-linked recessive disorder.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomo X
/
Doenças do Desenvolvimento Ósseo
/
Doenças Fetais
/
Fraturas Espontâneas
/
Monossomia
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Limite:
Female
/
Humans
/
Male
/
Pregnancy
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1996
Tipo de documento:
Article
País de afiliação:
Canadá