Cranio-osteoarthropathy in sibs.
Clin Dysmorphol
; 16(3): 197-201, 2007 Jul.
Article
em En
| MEDLINE
| ID: mdl-17551338
Primary hypertrophic osteoarthropathy is a condition characterized by clubbing, arthropathy and periostosis of long tubular bones. Three variants of primary hypertrophic osteoarthropathy are distinguished: pachydermoperiostosis, which shows as additional symptom pachydermia; cranio-osteoarthropathy, which has a decreased neurocranium ossification as additional feature; and a secondary form. Primary hypertrophic osteoarthropathy is also genetically heterogeneous, with evidence for both autosomal dominant and autosomal recessive inheritance. We describe two sibs with cranio-osteoarthropathy and briefly review previously reported cases. The present cases demonstrate the phenotypic variability of the condition. The consanguinity in the present family and analysis of previously described cases support autosomal recessive inheritance for cranio-osteoarthropathy.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Osteoartropatia Hipertrófica Primária
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Crânio
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Irmãos
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
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Female
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Humans
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Infant
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Male
Idioma:
En
Ano de publicação:
2007
Tipo de documento:
Article