| Auriculo-condylar syndrome. Confronting a diagnostic challenge. | |
| | |
MedLine Citation:
|
PMID: 22105959 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
|
Auriculo-condylar syndrome (ACS) is characterized by typical ears malformation (so-called "question mark" ears), prominent cheeks, microstomia, and abnormality of the temporomandibular joint and condyle of the mandible. In this report we describe a new simplex case and a previously unreported family with affected individuals in three generations documenting clinical variability. Linkage study for markers located in candidate region for ACS1 (1p21.1-q23.3) was excluded in our familial case, reinforcing the hypothesis of genetic heterogeneity for this condition. A review of the literature focusing diagnostic criteria and features of ACS was performed. © 2011 Wiley Periodicals, Inc. |
| | |
Authors:
|
Nancy Mizue Kokitsu-Nakata; Roseli Maria Zechi-Ceide; Siulan Vendramini-Pittoli; Vanessa Luiza Romanelli Tavares; Maria Rita Passos-Bueno; Maria Leine Guion-Almeida |
Related Documents
:
|
18513679 - Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in r... 6384869 - Diagnosis and management of cataracts in infancy and childhood. 22585569 - An unusual endoscopic presentation of solitary rectal ulcer syndrome. 6746679 - The hip in the moulded baby syndrome. 9220189 - Non-haematological traits associated with congenital dyserythropoietic anaemia type 1: ... 21985979 - Sporadic and hereditary primary hyperparathyroidism. 16959589 - Polycystic ovarian syndrome: the next cardiovascular dilemma in women? 19078069 - Churg-strauss syndrome with diffuse gastrointestinal involvement. 17141229 - Augmentation of chemokine production by severe acute respiratory syndrome coronavirus 3... |
Publication Detail:
|
Type: JOURNAL ARTICLE Date: 2011-11-21 |
Journal Detail:
|
Title: American journal of medical genetics. Part A Volume: - ISSN: 1552-4833 ISO Abbreviation: - Publication Date: 2011 Nov |
Date Detail:
|
Created Date: 2011-11-22 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: - |
Other Details:
|
Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
|
Copyright © 2011 Wiley Periodicals, Inc. |
Affiliation:
|
Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRCA-USP), Bauru, SP, Brazil. nancykn@centrinho.usp.br. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Alzheimer disease biomarkers are associated with body mass index.
Next Document: Enhanced Biomimetic Performance of Ionic Polymer-Metal Composite Actuators Prepared with Nanostructu...