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/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.
Zankl
Andreas
A
Genetic Health Queensland, Royal Children's Hospital, University of Queensland, Brisbane, Australia. andreas.zankl@gmail.com
Mornet
Etienne
E
Wong
Shell
S
D000328:Adult; D000469:Alkaline Phosphatase / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D005804:Genes, Lethal; D005865:Gestational Age; D006579:Heterozygote; D006801:Humans; D007014:Hypophosphatasia / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000201:enzymology / Q000235:genetics*; D008297:Male; D009154:Mutation; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000201:enzymology / Q000235:genetics; D010290:Parents; D011247:Pregnancy; D016216:Ultrasonography, Prenatal
D000469:Alkaline Phosphatase