Skip to content

Microcephalic osteodysplastic primordial dwarfism type II: Report of three cases and review

by Frank Majewski, Timm O. Goecke
American Journal of Medical Genetics ()
Get full text at journal

Abstract

We report on three further patients with microcephalic osteodysplastic dwarfism type II. All children have marked intrauterine and postnatal growth failure, microcephaly, and mental and statomotor retardation. They are disproportionately short statured due to short limbs. Characteristic skeletal abnormalities are small iliac wings with flat acetabular angles, coxa vara, V-shaped distal femoral metaphyses, and triangular distal femoral epiphyses, as well as pseudoepiphyses of metacarpals, short first metacarpals, and brachymesophalangy V. At age 3 years, bilateral epiphyseolysis of the femoral heads occurred in case 1. Including our patients, 17 cases have been published so far. We review the clinical picture and the cause.

Cite this document (BETA)

Readership Statistics

9 Readers on Mendeley
by Discipline
 
56% Agricultural and Biological Sciences
 
44% Medicine and Dentistry
by Academic Status
 
33% Professor > Associate Professor
 
22% Researcher
 
11% Lecturer > Senior Lecturer
by Country
 
11% United Kingdom
 
11% Belgium

Tags

Sign up today - FREE

Mendeley saves you time finding and organizing research. Learn more

  • All your research in one place
  • Add and import papers easily
  • Access it anywhere, anytime

Start using Mendeley in seconds!

Sign up & Download

Already have an account? Sign in