Geleophysic dysplasia: a report of three affected boys--prenatal ultrasound does not detect recurrence.
Am J Med Genet
; 58(3): 217-21, 1995 Sep 11.
Article
en En
| MEDLINE
| ID: mdl-8533820
ABSTRACT
Geleophysic dysplasia is characterized by short stature with short limbs and brachydactyly, a "happy" facial appearance, and joint contractures. Infiltration of heart valves and liver with a mucopolysaccharide-like substance has been demonstrated in some patients. A metabolic pathogenesis is suspected, but has not yet been identified. We report on 3 boys with the condition, 2 of whom are brothers. Serial ultrasound scans were performed on 2 of the cases during pregnancy, but short limbs did not become obvious until after 28 weeks of gestation, making it an uninformative procedure for prenatal diagnosis.
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Banco de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
/
Deformidades Congénitas de la Mano
/
Contractura
/
Enanismo
/
Extremidades
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Female
/
Humans
/
Male
/
Newborn
/
Pregnancy
Idioma:
En
Año:
1995
Tipo del documento:
Article