Prenatal sonographic features of dyssegmental dysplasia Rolland-Desbuquois type.
J Clin Ultrasound
; 39(8): 480-3, 2011 Oct.
Article
en En
| MEDLINE
| ID: mdl-21882205
ABSTRACT
Dyssegmental dysplasia is a rare, lethal, autosomal-recessive disorder characterized by severe camptomicromelia and anisospondyly. We describe the prenatal sonographic findings in an index case of the Rolland-Desbuquois type, with the diagnosis made by neonatal skeletal survey. Recognition of the unique vertebral disorganization may be used to prenatally distinguish dyssegmental dysplasia from other severe short-limbed conditions.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Acondroplasia
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Ultrasonografía Prenatal
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Fisura del Paladar
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Displasia Campomélica
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
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Female
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Humans
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Pregnancy
Idioma:
En
Revista:
J Clin Ultrasound
Año:
2011
Tipo del documento:
Article
País de afiliación:
Estados Unidos