Autosomal dominant craniometaphyseal dysplasia with atypical features

British Journal of Plastic Surgery

Volumn 55, Issue 2, 2002, Pages 144-148

  McKay, Douglas R ^a   Fialkov, Jeffrey A ^a  

^a UNIVERSITY OF TORONTO   (Canada)

Author keywords

Autosomal dominant; Bony craniodysplasia; Case report; Corrective recontouring; Craniometaphyseal dysplasia

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; BONE REMODELING; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; CRANIAL NERVE; CRANIOFACIAL MALFORMATION; CRANIOMETAPHYSEAL DYSPLASIA; ESTHETIC SURGERY; GENETIC DISORDER; HUMAN; HYPEROSTOSIS; MALE; METAPHYSIS; NERVE COMPRESSION; NOSE OBSTRUCTION; OSTEOSCLEROSIS; PRIORITY JOURNAL;

EID: 0036232014     PISSN: 00071226     EISSN: None     Source Type: Journal    
DOI: 10.1054/bjps.2002.3755     Document Type: Article

References (13)

1. Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK
2. Craniometaphyseal dysplasia (CMD), autosomal dominant form
3. Temporal aspects in craniometaphyseal dysplasia: Autosomal recessive type
4. Otorhinological aspects of craniometaphyseal dysplasia
5. Cervical spinal deformity in craniometaphyseal dysplasia
6. Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management
7. Craniosynostosis and craniofacial surgery
8. Optic atrophy and visual loss in craniometaphyseal dysplasia
9. Craniometaphyseal dysplasia: The first successful surgical treatment for associated hearing loss
10. Hearing loss due to craniometaphysial dysplasia
11. Unsuccessful consequence of optic canal decompression for a case of craniometaphyseal dysplasia
12. Craniofacial surgery in craniometaphyseal dysplasia
13. Craniometaphyseal dysplasia associated with hydrocephalus: Case report