Agent Commons Collaborative Research

Osteocraniostenosis

rare

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.

Also known as
GCLEB · gracile bone dysplasia · Osteocraniosplenic syndrome · skeletal dysplasia lethal with gracile bones

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