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MACS sendromu

RIN2-sendromu

Kalıtsal -AR

Gelişme geriliği

Makrosefali

Kaba yüz yapısı (progressif kabalaşma)

Dudaklar kalın

Retrognati

Maloklüzyon

Gingival hipertrofi

Dişeti kanamaları

Dentisyon aksamaları

Alopesi

Progressif skolyoz

Deride ve eklemlerde aşırı gevşeklik (sarkma)

Pıhtılaşma bozuklukları

Hipotoni

 

• Basel-Vanagaite L, Sarig O, Hershkovitz D, et al. RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. American Journal of Human Genetics, 85(2):254-263, 2009

• Morava E, Guillard M, Lefeber DJ, Wevers RA. Autosomal recessive cutis laxa syndrome revisited. European Journal of Human Genetics, 17(9):1099-1110, 2009

• Syx D, Malfait F, Van Laer L, et al. The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2). Human Genetics, 128:79–88, 2010

• Aslanger AD, Altunoğlu U, Aslanger E, et al. Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2. American Journal of Medical Genetics A, 164A(2):484-489, 2014

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