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[Treacher-Collins syndrome: clinical and genetic aspects apropos of 4 cases of which 1 is familial].
Tunis Med. 2007 Oct; 85(10):885-90.TM

Abstract

Treacher Collins syndrome was first mentioned by Thompson in 1847, and described by Treacher Collins in 1900, then it was called mandibulo-facial dysostosis and well defined by Franceschetti in 1949. It is a very rare affection occurring lin 50.000 live births, which includes facial and auricular anomalies leading to functional, morphological and psychological difficulties due to related handicaps. Treacher Collins syndrome is inherited as autosomal dominant pattern with a variable expressivity and incomplete penetrance of "TCOF1" gene localized at 5q31.3q32. Today the gene is well identified and several mutations have been reported. In this paper we report the case of 4 Tunisian unrelated girls with Treacher Collins syndrome. One of them was born from an affected father. Clinical diagnostic was performed between age 12 days and 2 years demonstrating the large dysmorphic expression. Main clinical features were present in all reported cases. Family at risk might have genetic counselling and probably prenatal diagnostic in some situations. Out of our observations, we gave genetic counselling and proposed ultrasound prenatal diagnosis for two families without molecular study.

Authors+Show Affiliations

Service des maladies congénitales et héréditaires, hôpital Charles Nicolle, Tunis.No 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
English Abstract
Journal Article

Language

fre

PubMed ID

18236814

Citation

Chaabouni, Myriam, et al. "[Treacher-Collins Syndrome: Clinical and Genetic Aspects Apropos of 4 Cases of Which 1 Is Familial]." La Tunisie Medicale, vol. 85, no. 10, 2007, pp. 885-90.
Chaabouni M, Fersi M, Belghith N, et al. [Treacher-Collins syndrome: clinical and genetic aspects apropos of 4 cases of which 1 is familial]. Tunis Med. 2007;85(10):885-90.
Chaabouni, M., Fersi, M., Belghith, N., Maazoul, F., M'rad, R., Ben Jemaa, L., Gandoura, N., & Chaabouni, H. (2007). [Treacher-Collins syndrome: clinical and genetic aspects apropos of 4 cases of which 1 is familial]. La Tunisie Medicale, 85(10), 885-90.
Chaabouni M, et al. [Treacher-Collins Syndrome: Clinical and Genetic Aspects Apropos of 4 Cases of Which 1 Is Familial]. Tunis Med. 2007;85(10):885-90. PubMed PMID: 18236814.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Treacher-Collins syndrome: clinical and genetic aspects apropos of 4 cases of which 1 is familial]. AU - Chaabouni,Myriam, AU - Fersi,Mounir, AU - Belghith,Neila, AU - Maazoul,Faouzi, AU - M'rad,Ridha, AU - Ben Jemaa,Lamia, AU - Gandoura,Najoua, AU - Chaabouni,Habiba, PY - 2008/2/2/pubmed PY - 2008/3/8/medline PY - 2008/2/2/entrez SP - 885 EP - 90 JF - La Tunisie medicale JO - Tunis Med VL - 85 IS - 10 N2 - Treacher Collins syndrome was first mentioned by Thompson in 1847, and described by Treacher Collins in 1900, then it was called mandibulo-facial dysostosis and well defined by Franceschetti in 1949. It is a very rare affection occurring lin 50.000 live births, which includes facial and auricular anomalies leading to functional, morphological and psychological difficulties due to related handicaps. Treacher Collins syndrome is inherited as autosomal dominant pattern with a variable expressivity and incomplete penetrance of "TCOF1" gene localized at 5q31.3q32. Today the gene is well identified and several mutations have been reported. In this paper we report the case of 4 Tunisian unrelated girls with Treacher Collins syndrome. One of them was born from an affected father. Clinical diagnostic was performed between age 12 days and 2 years demonstrating the large dysmorphic expression. Main clinical features were present in all reported cases. Family at risk might have genetic counselling and probably prenatal diagnostic in some situations. Out of our observations, we gave genetic counselling and proposed ultrasound prenatal diagnosis for two families without molecular study. SN - 0041-4131 UR - https://www.unboundmedicine.com/medline/citation/18236814/[Treacher_Collins_syndrome:_clinical_and_genetic_aspects_apropos_of_4_cases_of_which_1_is_familial]_ L2 - http://www.diseaseinfosearch.org/result/7175 DB - PRIME DP - Unbound Medicine ER -