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Chondrodysplasia punctata in an adult recognized as vitamin K antagonist * embryopathy
Author(s) -
Hosenfeld D.,
Wiedemann H.R.
Publication year - 1989
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1989.tb02957.x
Subject(s) - medicine , pregnancy , short stature , genetic counseling , pediatrics , facial dysmorphism , wife , phenprocoumon , endocrinology , genetics , biology , gene , political science , warfarin , law , phenotype , atrial fibrillation
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.