Beals-Hecht sendromu
Congenital contractural arachnodactyly
Hetch-Beals sendromu
Arthrogryposis 7
Kalıtsal - AD
Marfan sendromunun benzeri
Gelişme geriliği
Brakisefal
Dolikosefali
Alın bombesi yüksek
Yüz uzun ve geniş
Lens ektopisi
Ptozis
Çukur damak
Mikrognati
Uzun koronoid çıkıntı
Trismus
Kulak kepçesi anomalileri
Araknodaktili
Eklemlerde konjenital fleksiyon kontraktürleri
Artrogripoz: Eklem hareketleri kısıtlı (bilek, diz, dirsek, kalça)
Kaslarda hipoplazi
Parmaklar kıvrık
Ayak kaslarında kısalık
Kifoskolyoz
Motor gelişme geriliği
Prognozu etkileyen ek bulgular:
Kalpte septum defektleri
Mitral kapak prolapsusu
Göğüs kafesi anomalileri
Gastrointestinal kanal atrezileri
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Gupta PA, Putnam EA, Carmical SG, et al. Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. Human Mutation, 19(1):39-48, 2002
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Godfrey M. Fibrillin-2 mutations in congenital contractural arachnodactyly. In: Robinson PN, Godfrey M, eds. Marfan Syndrome: A Primer for Clinicians and Scientists, pp. 123-129, Plenum, New York (NY), 2004
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Carlos R, Contreras E, Cabrera J. Trismus-pseudocamptodactyly syndrome (Hecht-Beals' syndrome): case report and literature review. Oral Disease,11(3):186-189, 2005
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Callewaert BL, Loeys BL, Ficcadenti A, et al. Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. Human Mutation, 30(3):334-341, 2009
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Jurko A Jr, Krsiakova J, Minarik M, Tonhajzerova I. Congenital contractural arachnodactyly (Beals-Hecht syndrome): a rare connective tissue disorder. Wien Klinische Wochenschrift, 125(9-10):288-290, 2013