1. Holt Oram syndrome mistaken for thalidomide embryopathy-embryological considerations
- Author
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Christine Kirkpatrick, Frédéric Rodesch, Ph. Jeanty, J. Milaire, D. Haumont, N. Van Regemorter, Dodion J, Marcel Rooze, and P. Viseur
- Subjects
Adult ,Heart Defects, Congenital ,Thalidomide Embryopathy ,Pediatrics ,medicine.medical_specialty ,Ectromelia ,Heart malformation ,Genetic counseling ,Genetic Counseling ,Diagnosis, Differential ,Pregnancy ,medicine ,Humans ,Reproductive history ,Phenocopy ,Genetics ,Holt–Oram syndrome ,business.industry ,Infant, Newborn ,Abnormalities, Drug-Induced ,Syndrome ,medicine.disease ,Pedigree ,Thalidomide ,Phenotype ,Pediatrics, Perinatology and Child Health ,Female ,business - Abstract
The reproductive history of a woman diagnosed as having a thalidomide syndrome clearly shows that she is affected by the Holt Oram syndrome (autosomal dominant inheritance). The problem of considering a phenocopy in genetic counselling is discussed. A study of the family illustrates the wide range of clinical manifestations of the Holt Oram syndrome. Embryological considerations are given.
- Published
- 1982