Specific ultrasonographic features of perinatal lethal hypophosphatasia

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/hypochondrogenes...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2008-05, Vol.146A (9), p.1200-1204
Main Authors: Zankl, Andreas, Mornet, Etienne, Wong, Shell
Format: Article
Language:English
Subjects:
achondrogenesis
Adult
Alkaline Phosphatase - genetics
Biological and medical sciences
bone dysplasia
Diagnosis, Differential
Diseases of the osteoarticular system
Errors of metabolism
Female
Genes, Lethal
Gestational Age
Heterozygote
Humans
hypochondrogenesis
hypophosphatasia
Hypophosphatasia - diagnosis
Hypophosphatasia - diagnostic imaging
Hypophosphatasia - enzymology
Hypophosphatasia - genetics
lethal
Male
Malformations and congenital and or hereditary diseases involving bones. Joint deformations
Medical genetics
Medical sciences
Metabolic diseases
Miscellaneous hereditary metabolic disorders
Mutation
Osteochondrodysplasias - diagnosis
Osteochondrodysplasias - diagnostic imaging
Osteochondrodysplasias - enzymology
Osteochondrodysplasias - genetics
osteogenesis imperfecta
Parents
Pregnancy
prenatal diagnosis
Ultrasonography, Prenatal
ultrasound
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Summary: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. © 2008 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.32202