B

 

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

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

 

• 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

• 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

• Carlos R, Contreras E, Cabrera J. Trismus-pseudocamptodactyly syndrome (Hecht-Beals' syndrome): case report and literature review. Oral Disease,11(3):186-189, 2005

• 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

• 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