Geleophysic dysplasia: 7-year follow-up study of a patient with an intermediate form.
Geleophysic dysplasia (MIM *231050) is a rare autosomal recessive disorder, characterized by short stature with short limbs, brachydactyly, joint contractures, and a good-natured facial appearance. Infiltration of liver and cardiac leaflets has been reported in some patients. Based on the clinical picture and the detection of lysosome-like inclusions in hepatocytes, tracheal mucosa, chondrocytes, and skin fibroblasts, the underlying cause of the conditions is considered to be a generalized lysosomal storage defect. We report on a new case born to consanguineous parents, first observed at age 8 months, and for whom a 7-year follow-up is available.
Titomanlio
L
L
Department of Pediatrics, Federico II University, Naples, Italy.
Della Casa
R
R
Lecora
M
M
Farina
V
V
Sebastio
G
G
Andria
G
G
Parenti
G
G
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D002648:Child; D003241:Consanguinity; D005145:Face / Q000002:abnormalities*; D005500:Follow-Up Studies; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D011379:Prognosis