A Schinzel-Giedion-like syndrome--a milder version or a separate condition?
Clin Dysmorphol
; 11(4): 271-5, 2002 Oct.
Article
en En
| MEDLINE
| ID: mdl-12401993
ABSTRACT
We report two 12-year-old monozygotic twins followed from birth. Their features include midface hypoplasia, a prominent forehead, coarse features, sensorineural deafness, short stature with thoracic kyphosis and lumbar lordosis and intellectual delay. As they have developed, their features have been reminiscent of a storage disorder but mucopolysaccharidoses, mucolipidoses and gangliosidoses have been excluded by biochemical testing. We discuss the phenotypic overlap with the Schinzel-Giedion syndrome but highlight the important differences. Individuals with Schinzel-Giedion syndrome tend to have renal and cardiac malformations and to have a very poor outlook, often dying in the first 3 years of life. We suggest that these twins have a previously undescribed Schinzel-Giedion like syndrome.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
/
Cara
/
Pérdida Auditiva Sensorineural
Límite:
Child
/
Humans
Idioma:
En
Revista:
Clin Dysmorphol
Asunto de la revista:
TERATOLOGIA
Año:
2002
Tipo del documento:
Article
País de afiliación:
Reino Unido