Format

Send to:

Choose Destination

Links from PubMed

Items: 2

1.

Craniodiaphyseal dysplasia, autosomal dominant

Craniodiaphyseal dysplasia is a severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. Progressive bony encroachment upon cranial foramina leads to severe neurologic impairment in childhood (summary by Brueton and Winter, 1990). The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine facies), and the bone deposition results in progressive stenosis of craniofacial foramina (summary by Kim et al., 2011). [from OMIM]

MedGen UID:
382678
Concept ID:
C2675746
Disease or Syndrome
2.

Craniodiaphyseal dysplasia

MedGen UID:
96080
Concept ID:
C0410539
Disease or Syndrome

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center