4.2 Article Proceedings Paper

A rare lethal osteosclerotic bone dysplasia. prenatal diagnosis, autopsy, and neuropathological findings

Journal

AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 143A, Issue 24, Pages 3280-3285

Publisher

WILEY-LISS
DOI: 10.1002/ajmg.a.32022

Keywords

raine syndrome.; osteosclerosis; cloverleaf skull; nasal hypoplasia; hypertrophic gums; intracerebral calcifications; proptosis; desmosterolosis

Ask authors/readers for more resources

Raine syndrome is an autosornal recessive condition with generalized osteosclerosis, characteristic facial dysmorphisin and brain abnormalities including intracerebral calcifications. We report on a case with Raine syndrome horn to nonconsanguineous couple and report the prenatal sonogram/MRI, the fetopathology, and neuropathology findings. (c) 2007 Wiley-Liss, Inc.

Authors

I am an author on this paper
Click your name to claim this paper and add it to your profile.

Reviews

Primary Rating

4.2
Not enough ratings

Secondary Ratings

Novelty
-
Significance
-
Scientific rigor
-
Rate this paper

Recommended

No Data Available
No Data Available