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Chondrodysplasia punctata in an adult recognized as vitamin K antagonist embryopathy
1Department of Human Genetics, University of Kiel Hospital, University Children's Hospital, FRG.
Insights
Genetic counseling revealed a father with hereditary chondrodysplasia punctata feared recurrence. However, his mother
Area of Science:
- Medical Genetics
- Teratology
Background:
- A 32-year-old man with autosomal dominant chondrodysplasia punctata and facial dysmorphism sought genetic counseling due to his wife's pregnancy.
- He feared a high risk of recurrence for his child, experiencing significant psychological distress.
Abstract:
A 32-year-old man with disproportionate short stature and striking facial dysmorphism came to genetic counseling as his wife was expecting their first child. In early infancy he had been diagnosed as having chondrodysplasia punctata, later regarded to be the autosomal dominant hereditary form. The expectant father was therefore convinced of a high risk of recurrence and vacillated between thoughts of taking his own life and of having his wife's pregnancy terminated. When his history revealed recurrent thromboses in his mother, treated with anticoagulants during pregnancy, her medical records of 1953 were located, and they disclosed that she had been treated with phenprocoumon (Marcoumar) from the 8th to the 12th and from the 13th to the 15th weeks of pregnancy. The patient has since become the father of a healthy son.