| Saethre-Chotzen syndrome: review of the literature and report of a case. | |
| | |
MedLine Citation:
|
PMID: 11314068 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Saethre-Chotzen syndrome is an autosomal acrocephalosyndactyly syndrome whose gene has been assigned to chromosome 7p (TWIST). A case of a 13-year-old girl with Saethre-Chotzen syndrome (ACS III) is described. The features of the syndrome include: turriplagiocephaly with a cranial circumference of 52 cm, facial asymmetry, low hairline, proptosis, antimongoloid slanting of palpebral fissures, nasal deviation with high bridge, angled ears, scoliosis and torticollis, clinodactyly of the fourth and fifth toes, large halluxes, and neurosensorial hypoacusia. For correction of the deformity, a cranioorbital remodeling was performed. The craniofacial approach with remodeling of the frontal bar and reduction of the turricephaly resulted in a satisfactory morphological and functional outcome, with complete three-dimensional reshaping and remodeling of the frontonasoorbital area. |
| | |
Authors:
|
L Clauser; M Galiè; A Hassanipour; O Calabrese |
Related Documents
:
|
18622788 - Hypersociability in williams syndrome: a role for the amygdala? 333338 - Correction of the long face syndrome by le fort i osteotomy. a report on some new techn... 8230158 - Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype. 17029528 - Familial occurrence of nonsyndromal multiple supernumerary teeth. a rare condition. 12478628 - Prenatal sonographic diagnosis of the 49,xxxxy syndrome. 18622788 - Hypersociability in williams syndrome: a role for the amygdala? |
Publication Detail:
|
Type: Case Reports; Journal Article; Review |
Journal Detail:
|
Title: The Journal of craniofacial surgery Volume: 11 ISSN: 1049-2275 ISO Abbreviation: J Craniofac Surg Publication Date: 2000 Sep |
Date Detail:
|
Created Date: 2001-04-20 Completed Date: 2001-05-24 Revised Date: 2005-11-16 |
Medline Journal Info:
|
Nlm Unique ID: 9010410 Medline TA: J Craniofac Surg Country: United States |
Other Details:
|
Languages: eng Pagination: 480-6 Citation Subset: D |
Affiliation:
|
Department of Craniomaxillofacial Surgery, St. Anna Hospital, Corso Giovecca 203, 44100 Ferrara, Italy. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Acrocephalosyndactylia
/
genetics,
pathology*,
surgery Adolescent Chromosomes, Human, Pair 7 / genetics Craniosynostoses / pathology Exophthalmos / pathology Eyelids / pathology Facial Asymmetry / pathology Female Frontal Bone / surgery Humans Nose / abnormalities, surgery Orbit / surgery Treatment Outcome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Bioceramics as an option in correction of facial skeleton deformities.
Next Document: Pneumosinus dilatans multiplex, mental retardation, and facial deformity.