Zespół Toriello-Careya

Zespół Toriello-Careya (agenezja ciała modzelowatego z anomaliami twarzy i sekwencją Robina, ang. Toriello-Carey syndrome, agenesis of corpus callosum with facial anomalies and Robin sequence) – rzadki zespół wad wrodzonych, opisany po raz pierwszy przez Toriello i Careya w 1988 roku u czwórki dzieci[1]. Termin zespołu Toriello-Careya wprowadził Lacombe i wsp. w 1992 roku[2]. Dziedziczenie jest najprawdopodobniej autosomalne recesywne[3], chociaż przedstawiano też dowody na dziedziczenie sprzężone z płcią[4].

Objawy i przebieg

Na fenotyp zespołu składają się:

Przypisy

  1. ↑ Toriello HV, Carey JC. Corpus callosum agenesis, facial anomalies, Robin sequence, and other anomalies: a new autosomal recessive syndrome?. „American journal of medical genetics”. 1 (31), s. 17–23, wrzesień 1988. DOI: 10.1002/ajmg.1320310105. PMID: 3223497. 
  2. ↑ Lacombe D, Creusot G, Battin J. New case of Toriello-Carey syndrome. „American journal of medical genetics”. 3 (42), s. 374–6, luty 1992. DOI: 10.1002/ajmg.1320420325. PMID: 1536182. 
  3. ↑ Chinen Y, Tohma T, Izumikawa Y, Taketomi H, Iha T, Ohta T, Naritomi K. Two sisters with Toriello-Carey syndrome. „American journal of medical genetics”. 3 (87), s. 262–4, listopad 1999. PMID: 10564882. 
  4. ↑ Paula Czarnecki, Didier Lacombe, Lester Weiss, Toriello-Carey syndrome: evidence for X-linked inheritance, „American Journal of Medical Genetics”, 65 (4), 1996, DOI: 10.1002/(SICI)1096-8628(19961111)65:4<291::AID-AJMG9>3.0.CO;2-S, PMID: 8923938.
  5. ↑ Ohta H, Masuno M, Kimura J, Imaizumi K, Kuroki Y, Yasui S, Aida N, Tanaka Y. Toriello-Carey syndrome with endocardial fibroelastosis. „American journal of medical genetics”. 3 (87), s. 271–2, listopad 1999. PMID: 10564885. 

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