Probable autosomal recessive Marfan syndrome.
- 1 October 1977
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 14 (5) , 359-361
- https://doi.org/10.1136/jmg.14.5.359
Abstract
A probable autosomal recessive mode of inheritance is described in a family with 2 affected sisters. The sisters showed the typical picture of Marfan syndrome and were of normal intelligence. Both parents and all 4 grandparents were personally examined and found to be normal. Homocystinuria was ruled out on repeated examinations. This family suggests genetic heterogeneity in Marfan syndrome. In some rare families the mode of inheritance may be autosomal recessive.This publication has 2 references indexed in Scilit:
- Polysyndactyly and Marfan's syndromeJournal of Medical Genetics, 1974
- INHERITANCE OF ARACHNODACTYLY, ECTOPIA LENTIS AND OTHER CONGENITAL ANOMALIES (MARFAN'S SYNDROME) IN THE E. FAMILYArchives of Ophthalmology (1950), 1949