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Human facial dysostoses.
Clin Genet. 2013 Jun; 83(6):499-510.CG

Abstract

The human facial dysostoses can be subdivided into mandibulofacial dysostoses (MFDs) and acrofacial dysostoses (AFDs). The craniofacial phenotypes of the two groups of patients are similar. Both types are thought to be related to abnormal migration of neural crest cells to the pharyngeal arches and the face. The craniofacial anomalies shared by the two groups consist of downslanting palpebral fissures, coloboma of the lower eyelid, from which the eyelashes medial to the defect may be absent, hypoplasia of the zygomatic complex, micrognathia, and microtia, which is often associated with hearing loss. These facial deformities are associated with limb anomalies in the AFDs. All MFDs present with the typical craniofacial phenotype, but some have additional features that help to distinguish them clinically: intellectual disability, microcephaly, chest deformity, ptosis, cleft lip/palate, macroblepharon, or blepharophimosis. The limb anomalies in the AFDs can be classified into pre-axial, post-axial, and others not fitting into the first two AFD types. Of the pre-axial types, Nager syndrome and of the post-axial types, Miller syndrome are the best-known disorders of their AFD subgroups. Several other AFDs with unknown molecular genetic bases, including lethal ones, have been described. This article reviews the MFDs and AFDs published to date.

Authors+Show Affiliations

Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany. dagmar.wieczorek@uni-due.de

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

23565775

Citation

Wieczorek, D. "Human Facial Dysostoses." Clinical Genetics, vol. 83, no. 6, 2013, pp. 499-510.
Wieczorek D. Human facial dysostoses. Clin Genet. 2013;83(6):499-510.
Wieczorek, D. (2013). Human facial dysostoses. Clinical Genetics, 83(6), 499-510. https://doi.org/10.1111/cge.12123
Wieczorek D. Human Facial Dysostoses. Clin Genet. 2013;83(6):499-510. PubMed PMID: 23565775.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Human facial dysostoses. A1 - Wieczorek,D, Y1 - 2013/04/08/ PY - 2012/12/10/received PY - 2013/02/08/revised PY - 2013/02/12/accepted PY - 2013/4/10/entrez PY - 2013/4/10/pubmed PY - 2013/12/16/medline SP - 499 EP - 510 JF - Clinical genetics JO - Clin Genet VL - 83 IS - 6 N2 - The human facial dysostoses can be subdivided into mandibulofacial dysostoses (MFDs) and acrofacial dysostoses (AFDs). The craniofacial phenotypes of the two groups of patients are similar. Both types are thought to be related to abnormal migration of neural crest cells to the pharyngeal arches and the face. The craniofacial anomalies shared by the two groups consist of downslanting palpebral fissures, coloboma of the lower eyelid, from which the eyelashes medial to the defect may be absent, hypoplasia of the zygomatic complex, micrognathia, and microtia, which is often associated with hearing loss. These facial deformities are associated with limb anomalies in the AFDs. All MFDs present with the typical craniofacial phenotype, but some have additional features that help to distinguish them clinically: intellectual disability, microcephaly, chest deformity, ptosis, cleft lip/palate, macroblepharon, or blepharophimosis. The limb anomalies in the AFDs can be classified into pre-axial, post-axial, and others not fitting into the first two AFD types. Of the pre-axial types, Nager syndrome and of the post-axial types, Miller syndrome are the best-known disorders of their AFD subgroups. Several other AFDs with unknown molecular genetic bases, including lethal ones, have been described. This article reviews the MFDs and AFDs published to date. SN - 1399-0004 UR - https://www.unboundmedicine.com/medline/citation/23565775/Human_facial_dysostoses_ L2 - https://doi.org/10.1111/cge.12123 DB - PRIME DP - Unbound Medicine ER -