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Congenital contractural arachnodactyly in two double second cousins: possible homozygosity
T Bistritzer1, K Fried, E Lahat
1Department of Pediatrics, Assaf Harofeh Medical Center, Sackler School of Medicine, Tel Aviv University, Zerifin, Israel.
Insights
This study describes a Bedouin family with congenital contractural arachnodactyly (CCA). The findings suggest a rare autosomal recessive inheritance pattern for CCA in some families, differing from the usual dominant form.
Area of Science:
- Genetics
- Medical Genetics
- Pediatrics
Background:
- Congenital contractural arachnodactyly (CCA) is a rare genetic disorder.
- Typically, CCA follows an autosomal dominant inheritance pattern.
- Previous reports have not documented homozygous CCA.
Abstract:
A Bedouin family with two girls affected by severe congenital contractural arachnodactyly (CCA) is described. The girls were double second cousins. One of the girls also had ambiguous genitalia, an anomaly not generally associated with this disorder. The two children were both the product of first-cousin Bedouin parents from the same family. It is possible that both sets of parents were heterozygous for CCA; thus the infants may have been homozygous for CCA, which is usually an autosomal dominant condition. No instance of homozygous CCA has previously been reported. This family suggests genetic heterogeneity in CCA and that, in some rare families, the mode of inheritance may be autosomal recessive.