Spondyloepimetaphyseal dysplasia, Shohat type

Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.

Spondyloepimetaphyseal dysplasia



Total: 1

                       


(per page)
PMID (PMCID)
8074146
 MALE
Spondyloepimetaphyseal dysplasia (SEMD) Shohat type.
Figuera LE, Ramirez-Duenas ML, Gallegos-Arreola MP, Cantu JM.
Am J Med Genet. 1994;51(3):213-5.
Spondyloepimetaphyseal dysplasia (SEMD) Shohat type.