Pycnodysostosis with craniosynostosis: Case report of the craniofacial and oral features

Clinical Dysmorphology

Volumn 21, Issue 1, 2012, Pages 19-21

  Caracas, Hugo P ^a   Figueiredo, Paulo S ^a   Mestrinho, Heliana Dantas ^a   Acevedo, Ana Carolina ^a   Leite, André F ^a  

^a UNIVERSITY OF BRASILIA   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BRACHYDACTYLY; CASE REPORT; CHILD; COMPUTER ASSISTED TOMOGRAPHY; CRANIOFACIAL MALFORMATION; CRANIOFACIAL SYNOSTOSIS; CROSSBITE; DENTAL CARIES; EYE MALFORMATION; FACE MUSCLE; HUMAN; JAW RADIOGRAPHY; MALE; MAXILLA HYPOPLASIA; MICROGNATHIA; MUSCLE HYPOTONIA; NAIL DISEASE; NOSE MALFORMATION; OCCIPITAL PROMINENCE; PARIETAL BOSSING; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PYCNODYSOSTOSIS; SCHOOL CHILD; SHORT STATURE; SKULL MALFORMATION; TOOTH MALFORMATION;

CHILD; CRANIOFACIAL DYSOSTOSIS; CRANIOSYNOSTOSES; FACIAL BONES; GENES, RECESSIVE; HUMANS; MALE; PYCNODYSOSTOSIS; SKULL;

EID: 83255176802     PISSN: 09628827     EISSN: 14735717     Source Type: Journal    
DOI: 10.1097/MCD.0b013e32834c7da7     Document Type: Article

References (5)

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3. Gelb BD, Edelson JG, Desnick RJ (1995). Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping. Nat Genet 10:235-237.
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5. Osimani S, Husson I, Passemard S, Elmaleh M, Perrin L, Quelin C, et al. (2010). Craniosynostosis: a rare complication of pycnodysostosis. Eur J Med Gene 53:89-92.