Patients with geleophysic dysplasia are not always geleophysic.
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.
Santolaya
J M
JM
Department of Pediatrics, Basurto Hospital, Bilbao, Spain.
Groninga
L C
LC
Delgado
A
A
Monasterio
J L
JL
Camarero
C
C
Bilbao
F J
FJ
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D019066:Facies; D005684:Gait; D006801:Humans; D017880:Limb Deformities, Congenital; D008103:Liver Cirrhosis; D008297:Male; D010641:Phenotype; D012868:Skin Abnormalities