Geleophysic dysplasia: Report on two sibs

Abstract

The authors describe two additional cases of Geleophysic dysplasia in siblings, which is a rare autosomal recessive disorder of glycoprotein metabolism whose basic defects remain to be determined.<br>Os autores descrevem dois novos casos de displasia Geleofísica em irmãos, uma doença autossômica recessiva rara do metabolismo de glicoproteínas cujo defeito básico ainda não foi determinado

Clinical and morphological phenotype of geleophysic dysplasia

“…The craniofacial, skeletal, hepatic, ophthalmic and cardiovascular tissues can be affected by this storage disorder of unknown origin. 3,4 Features suggestive of a storage disease include short limb dwarfism, a happy (sweet-coarse) facial expression, full ear crus, small nose with depressed nasal bridge and anteverted nares, full cheeks, thick skin, limited movement of joints, small hands and feet, hepatomegaly, hypo-active deep tendon reflexes and a high-pitched voice. 5 The following report is of a 9-yearold boy with GD.…”