How to counsel in osteopathia striata with cranial sclerosis.

K Keymolen, M Bonduelle, M De Maeseneer, I Liebaers
Author Information
  1. K Keymolen: Department of Radiology, University Hospital, Vrije Universiteit Brussel.

Abstract

Osteopathia with cranial sclerosis (OS-CS) is an autosomal dominant condition, which is characterized by typical radiological changes of the skull and the long bones, in association with a wide variety of clinical symptoms. A family is reported with at least three affected individuals. One of them, a young women and her husband asked for a preconceptional advice, but the highly variable expressivity, as documented by this family, made it very difficult to counsel them properly.

MeSH Term

Adult
Bone Diseases
Female
Femur
Genetic Counseling
Humans
Male
Middle Aged
Radiography
Sclerosis
Skull

Word Cloud

Created with Highcharts 10.0.0cranialsclerosisfamilycounselOsteopathiaOS-CSautosomaldominantconditioncharacterizedtypicalradiologicalchangesskulllongbonesassociationwidevarietyclinicalsymptomsreportedleastthreeaffectedindividualsOneyoungwomenhusbandaskedpreconceptionaladvicehighlyvariableexpressivitydocumentedmadedifficultproperlyosteopathiastriata

Similar Articles

Cited By