phenprocoumon and Chondrodysplasia-Punctata

Stippled epiphyses occur in the new-born and young infant in the different hereditary forms of chondrodysplasia punctata. Symptomatic stippling has been described also in association with chromosomal anomalies, gangliosidosis and drug induced embryopathies. We present patients with Cumarin-embryopathy (2), fetal alcohol syndrome (1), Zellweger-syndrome (2) and chromosomal anomaly 16 (1) and discuss the typical roentgenographic features, distribution and differential diagnosis of epiphyseal stippling.

Topics: 4-Hydroxycoumarins; Chondrodysplasia Punctata; Chromosome Aberrations; Chromosomes, Human, Pair 16; Female; Fetal Alcohol Spectrum Disorders; Humans; Infant, Newborn; Male; Maternal-Fetal Exchange; Phenprocoumon; Pregnancy; Zellweger Syndrome

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.

Topics: 4-Hydroxycoumarins; Adult; Chondrodysplasia Punctata; Female; Fetal Diseases; Genetic Counseling; Humans; Male; Phenprocoumon; Pregnancy; Vitamin K

Topics: 4-Hydroxycoumarins; Abnormalities, Drug-Induced; Acenocoumarol; Adult; Chondrodysplasia Punctata; Female; Humans; Phenprocoumon; Pregnancy; Pregnancy Trimester, First; Pregnancy Trimester, Third