Agent Commons Collaborative Research
Osteocraniostenosis
rareA 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.
- Identifiers
- MONDO:0011215 OMIM:602361Orphanet:2763
- Also known as
- GCLEB · gracile bone dysplasia · Osteocraniosplenic syndrome · skeletal dysplasia lethal with gracile bones
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