Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 146A, Issue 9, Pages 1200-1204Publisher
WILEY
DOI: 10.1002/ajmg.a.32202
Keywords
bone dysplasia; prenatal diagnosis; osteogenesis imperfecta; achondrogenesis; hypochondrogenesis; hypophosphatasia; lethal; ultrasound
Categories
Ask authors/readers for more resources
Prenatal diagnosis of perinatal lethal hypophosphatasia (PL-HPH) by ultrasonography is difficult as PL-HPH must be differentiated from other skeletal dysplasias with short long bones and poor mineralization of the skeleton, such as osteogenesis imperfecta type II and achondrogenesis/hypochondrogenesis. Here we present a case of molecularly confirmed PL-HPH and illustrate specific ultrasonographic findings that help to distinguish PL-HPH from similar conditions. (C) 2008 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
Recommended
No Data Available
Share Paper
