Article
[Reinhardt-Pfeiffer mesomelic dysplasia or dyschondrosteosis? Is the distinction well-founded? Apropos of a familial case with variable expression].
Annales de pediatrie - 1 Jan 1991
Toutain A, Sirinelli D, Paillet C, Bonnard C, Body G, Maroteaux P, Moraine C
Abstract excerpt
A familial observation of Reinhardt-Pfeiffer type mesomelic chondrodysplasia spanning three generations is reported. This case clearly shows that expression of the disease can vary widely within a given family. One member affected as a fetus had a severe form suggesting Langer mesomelic dwarfism syndrome, whereas his mother was free of clinical symptoms and his maternal aunt had a typical form of...
Topics
- Acrocephalosyndactylia
- Adult
- Arm
- Dwarfism
- Enchondromatosis
- Female
- Fetal Diseases
- Genetic Variation
- Humans
- Leg
- Pedigree
- Pregnancy