Patients with geleophysic dysplasia are not always geleophysic.
Am J Med Genet
; 72(1): 85-90, 1997 Oct 03.
Article
em En
| MEDLINE
| ID: mdl-9295082
ABSTRACT
We report on two boys with facial anomalies, small hands and feet, joint contractures, thick skin, unusual tiptoe gait and lysosome-like inclusions in the hepatocytes, compatible with a diagnosis of geleophysic dysplasia (GD). One of them also had fibrosis and fatty degeneration of the liver. In both, the facial appearance was different and neither had short stature nor progressive cardiac valvular disease. These clinical findings, consistent with a mild form of GD, support the notion that this disorder may have a broader spectrum than initially suspected.
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Base de dados:
MEDLINE
Assunto principal:
Anormalidades da Pele
/
Anormalidades Múltiplas
/
Deformidades Congênitas dos Membros
/
Fácies
/
Cirrose Hepática
Idioma:
En
Ano de publicação:
1997
Tipo de documento:
Article