Osteocraniostenosis
Osteocraniostenosis
Definition
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 gracile bone dysplasia, Osteocraniosplenic syndrome, osteocraniostenosis — per MONDO