Osteocraniostenosis
Synonyms: Gracile bone dysplasia | Osteocraniosplenic syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Osteocraniostenosis?
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