Osteocraniostenosis

Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.

Micromelia

The presence of abnormally small extremities.


Total: 1

                       


(per page)
PMID (PMCID)
16086393
 MALE Infant
Gracile bones, periostal appositions, hypomineralization of the cranial vault, and mental retardation in brothers: milder variant of osteocraniostenosis or new syndrome?
Verloes A, Garel C, Robertson S, Le Merrer M, Baumann C.
Am J Med Genet A. 2005;137(2):199-203.
This disorder shares some traits with osteocraniostenosis, but lacks the cranial deformity and acromelic micromelia of the latter, in which periostal anomalies are not described.