New case of Bartsocas-Papas syndrome surviving at 20 months
- 1 March 1992
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 42 (5) , 733-735
- https://doi.org/10.1002/ajmg.1320420522
Abstract
We report on patient with Bartsocas-Papas syndrome surviving at age 20 months. Similar to 7 previously reported families, this patient is of Mediterranean ancestry, pointing to clustering of the responsible mutant gene in Southern Europe. In 3 of the 11 Bartsocas-Papas syndrome patients described so far, including the present case, the condition has not been neonatally lethal. This suggests that about one-fourth of these patients could survive. This information is important for genetic counseling.Keywords
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- The Bartsocas-Papas syndrome: Autosomal recessive form of popliteal pterygium syndrome in a male infantAmerican Journal of Medical Genetics, 1984
- Limb pterygium syndromes: A review and report of eleven patientsAmerican Journal of Medical Genetics, 1982