Prenatal diagnosis in congenital contractural arachnodactyly

Susan Belleh, Linda Spooner, Judith Allanson, Maurice Godfrey

Research output: Contribution to journalArticle

3 Scopus citations

Abstract

Congenital contractural arachnodactyly (CCA) is a heritable connective tissue disorder caused by defects in the gene encoding fibrillin-2 (FBN2). People with CCA typically have a marfanoid habitus, flexion contractures, severe kyphoscoliosis, abnormal pinnae, and muscular hypoplasia. Because of the relative infrequency of the syndrome and its generally mild to moderate severity, prenatal diagnosis had not previously been sought. Here we report prenatal diagnosis in a family with CCA. Because the course of the disease in the proband was rather severe, she had requested genetic counseling as early as age 17. She delayed childbearing until prenatal diagnosis for CCA became possible. This decision was supported by her mother and later her husband. Because she shared the same genotype with her husband, genetic linkage analysis of this family did not alter the a priori 50% risk of having an affected child. The possibility of unambiguously ascertaining the affected status of a fetus homozygous for the tested FBN2 marker was sufficient for the family to pursue prenatal diagnosis. This case strongly points to the importance of informed decisions now that genetic testing is becoming commonplace.

Original languageEnglish (US)
Pages (from-to)293-296
Number of pages4
JournalGenetic Testing
Volume1
Issue number4
DOIs
StatePublished - 1998

ASJC Scopus subject areas

  • Genetics(clinical)

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