Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 143A, Issue 24, Pages 3280-3285Publisher
WILEY-LISS
DOI: 10.1002/ajmg.a.32022
Keywords
raine syndrome.; osteosclerosis; cloverleaf skull; nasal hypoplasia; hypertrophic gums; intracerebral calcifications; proptosis; desmosterolosis
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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.
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