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Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome.
Am J Med Genet A. 2009 May; 149A(5):837-43.AJ

Abstract

Treacher Collins syndrome (TCS, OMIM 154500) is a well-defined mandibulofacial dysostosis characterized by symmetric facial anomalies consisting of malar hypoplasia, coloboma of the lower eyelid, dysplastic ears, micrognathia, cleft palate and deafness. Other mandibulofacial dysostoses (MDs) such as Toriello (OMIM 301950), Bauru (OMIM 604830), Hedera-Toriello-Petty (OMIM 608257), and Guion-Almeida (OMIM 610536) syndromes are less well characterized and much rarer. Here we describe three unrelated patients showing clinical features overlapping with TCS, but who in addition have developmental delay, microcephaly and a distinct facial gestalt. Because of the distinct ear anomalies and the hearing loss a HOXA2 mutation was taken into account. CHARGE syndrome was discussed because of ear anomalies, choanal atresia, and developmental delay in our patients. But mutational analyses including sequencing of the TCOF1, the HOXA2, and the CHD7 genes, deletion screening of the TCOF1 gene as well as genomewide array analyses revealed normal results. We suggest that these three patients have a new type of mandibulofacial dysostosis. As all three cases are sporadic and both sexes are affected the pattern of inheritance might be autosomal dominant or autosomal recessive. Identification of additional patients will allow to further delineate the phenotype, to assign the inheritance pattern and to identify the molecular basis.

Authors+Show Affiliations

Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany. dagmar.wieczorek@uni-due.deNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

19334086

Citation

Wieczorek, Dagmar, et al. "Microcephaly, Microtia, Preauricular Tags, Choanal Atresia and Developmental Delay in Three Unrelated Patients: a Mandibulofacial Dysostosis Distinct From Treacher Collins Syndrome." American Journal of Medical Genetics. Part A, vol. 149A, no. 5, 2009, pp. 837-43.
Wieczorek D, Gener B, González MJ, et al. Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome. Am J Med Genet A. 2009;149A(5):837-43.
Wieczorek, D., Gener, B., González, M. J., Seland, S., Fischer, S., Hehr, U., Kuechler, A., Hoefsloot, L. H., de Leeuw, N., Gillessen-Kaesbach, G., & Lohmann, D. R. (2009). Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome. American Journal of Medical Genetics. Part A, 149A(5), 837-43. https://doi.org/10.1002/ajmg.a.32747
Wieczorek D, et al. Microcephaly, Microtia, Preauricular Tags, Choanal Atresia and Developmental Delay in Three Unrelated Patients: a Mandibulofacial Dysostosis Distinct From Treacher Collins Syndrome. Am J Med Genet A. 2009;149A(5):837-43. PubMed PMID: 19334086.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome. AU - Wieczorek,Dagmar, AU - Gener,Blanca, AU - González,Ma Jesús Martínez, AU - Seland,Saskia, AU - Fischer,Sven, AU - Hehr,Ute, AU - Kuechler,Alma, AU - Hoefsloot,Lies H, AU - de Leeuw,Nicole, AU - Gillessen-Kaesbach,Gabriele, AU - Lohmann,Dietmar R, PY - 2009/4/1/entrez PY - 2009/4/1/pubmed PY - 2009/6/19/medline SP - 837 EP - 43 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 149A IS - 5 N2 - Treacher Collins syndrome (TCS, OMIM 154500) is a well-defined mandibulofacial dysostosis characterized by symmetric facial anomalies consisting of malar hypoplasia, coloboma of the lower eyelid, dysplastic ears, micrognathia, cleft palate and deafness. Other mandibulofacial dysostoses (MDs) such as Toriello (OMIM 301950), Bauru (OMIM 604830), Hedera-Toriello-Petty (OMIM 608257), and Guion-Almeida (OMIM 610536) syndromes are less well characterized and much rarer. Here we describe three unrelated patients showing clinical features overlapping with TCS, but who in addition have developmental delay, microcephaly and a distinct facial gestalt. Because of the distinct ear anomalies and the hearing loss a HOXA2 mutation was taken into account. CHARGE syndrome was discussed because of ear anomalies, choanal atresia, and developmental delay in our patients. But mutational analyses including sequencing of the TCOF1, the HOXA2, and the CHD7 genes, deletion screening of the TCOF1 gene as well as genomewide array analyses revealed normal results. We suggest that these three patients have a new type of mandibulofacial dysostosis. As all three cases are sporadic and both sexes are affected the pattern of inheritance might be autosomal dominant or autosomal recessive. Identification of additional patients will allow to further delineate the phenotype, to assign the inheritance pattern and to identify the molecular basis. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/19334086/Microcephaly_microtia_preauricular_tags_choanal_atresia_and_developmental_delay_in_three_unrelated_patients:_a_mandibulofacial_dysostosis_distinct_from_Treacher_Collins_syndrome_ L2 - https://doi.org/10.1002/ajmg.a.32747 DB - PRIME DP - Unbound Medicine ER -