title: Prenatal diagnosis of short-rib polydactyly syndrome type 3 (Verma-Naumoff type) by three-dimensional helical computed tomography.
abstract: We present a case of short-rib polydactyly syndrome (SRPs) type 3 in which accurate prenatal diagnosis was feasible using both ultrasonography and 3D-CT. SRP encompass a heterogeneous group of lethal skeletal dysplasias. However, the phenotypes overlap with those of nonlethal skeletal dysplasias (i.e. Ellis-van Creveld syndrome and Jeune syndrome). As accurate prenatal diagnosis of SRP is helpful for parents, we used 3D-CT in the early third trimester to examine a fetus suggested to have phenotypes of 'short-rib dysplasia group' on ultrasonography. 3D-CT showed mild modification of the vertebral bodies, small ilia with horizontal acetabula and triangular partial ossification defects, and subtle metaphyseal irregularities of the femora. These CT findings and an extensive literature search regarding the phenotypes of various diseases categorized as short-rib dysplasia group led to a correct prenatal diagnosis of SRP type 3. This case exemplified the usefulness of 3D-CT for the precise prenatal diagnosis of skeletal dysplasias.
authors.affiliation: Department of Obstetrics and Gynecology, Hokkaido University Graduate School of Medicine, Sapporo, Japan. taka0197@med.hokudai.ac.jp
authors.forename: Takahiro
authors.initials: T
authors.lastname: Yamada
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.forename: Keiichiro
authors.initials: K
authors.lastname: Nishida
authors.forename: Hideaki
authors.initials: H
authors.lastname: Sawai
authors.forename: Tokuhiko
authors.initials: T
authors.lastname: Omatsu
authors.forename: Taichi
authors.initials: T
authors.lastname: Kimura
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Nishihara
authors.forename: Rina
authors.initials: R
authors.lastname: Shono
authors.forename: Shigeki
authors.initials: S
authors.lastname: Shimada
authors.forename: Mamoru
authors.initials: M
authors.lastname: Morikawa
authors.forename: Masato
authors.initials: M
authors.lastname: Mizushima
authors.forename: Takashi
authors.initials: T
authors.lastname: Yamada
authors.forename: Kazutoshi
authors.initials: K
authors.lastname: Cho
authors.forename: Shinya
authors.initials: S
authors.lastname: Tanaka
authors.forename: Hiroki
authors.initials: H
authors.lastname: Shirato
authors.forename: Hisanori
authors.initials: H
authors.lastname: Minakami
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000473:pathology; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012779:Short Rib-Polydactyly Syndrome / Q000000981:diagnostic imaging / Q000473:pathology; D036542:Tomography, Spiral Computed; D014463:Ultrasonography