Congenital Contractural Arachnodactyly; two unrelated newborns with novel clinical findings

İbrahim Akalın 1 2 * , Didem Armangil 3, Esad Köklü 3
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1 Trabzon Women’s and Children’s Hospital, Genetic Diseases Diagnosis Center, Trabzon, Turkey
2 Istanbul Medeniyet University, Goztepe Training & Research Hospital, Medical Genetics. İstanbul, Turkey
3 Trabzon Women’s and Children’s Hospital, Neonatalogy Unit, Trabzon, Turkey
* Corresponding Author
EUR J BASIC MED SCI, Volume 2, Issue 2, pp. 50-55. https://doi.org/10.21601/ejbms/9181
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ABSTRACT

Congenital Contractural Arachnodactyly (CCA; Beals syndrome) is a rare autosomal dominant disorder of connective tissue. CCA represents similar phenotypical features of Marfan syndrome such as tall stature and arachnodactyly, with contrasting multiple joint contractures involving elbows, knees and even fingers with typical crumpled ear helices. Here, we present two separate newborns representing novel findings such as retinal hemorrhage, bilateral simian lines and cryptorchism in addition to classical findings. However, pedigree analyses of patients were suggesting somatic mosaicism in addition to the represented distinct features of Beals syndrome; one with milder phenotype and even lack of typical crumpled ear helices, and the other with severe vertebral findings such as kyphoscoliosis.
Keywords: Beals syndrome, Marfan syndrome, arachnodactyly, retinal hemorrhage, kyphoscoliosis

CITATION

Akalın İ, Armangil D, Köklü E. Congenital Contractural Arachnodactyly; two unrelated newborns with novel clinical findings. Eur J Basic Med Sci. 2012;2(2):50-5. https://doi.org/10.21601/ejbms/9181

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