Evidence map›Paper›PMID 28674909›Full record

ArticleLa Radiologia medica2017

Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis.

Maria Pia Bondioni, Ugo Ernesto Pazzaglia, Claudia Izzi, Giuseppe Di Gaetano, Francesco Laffranchi, Maurizia Baldi, Federico Prefumo

Abstract readComparative Study
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In one paragraph

Article in La Radiologia medica, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Maria Pia BondioniPediatric Radiology, Department of Medical and Surgical Specialties, Radiological Sciences and Public Health, University of Brescia, P.le Spedali Civili n. 1, 25100, Brescia, Italy. mariapiabondioni@gmail.com.ORCID http://orcid.org/0000-0002-3107-0525
Ugo Ernesto PazzagliaOrthopaedic Clinic, Department of Medical and Surgical Specialties, Radiological Sciences and Public Health, University of Brescia, Brescia, Italy.
Claudia IzziPrenatal Diagnosis Unit, Department of Obstretics and Gynecology, ASST Spedali Civili of Brescia, Brescia, Italy.
Giuseppe Di GaetanoPediatric Radiology, Department of Medical and Surgical Specialties, Radiological Sciences and Public Health, University of Brescia, P.le Spedali Civili n. 1, 25100, Brescia, Italy.
Francesco LaffranchiPediatric Radiology, Department of Medical and Surgical Specialties, Radiological Sciences and Public Health, University of Brescia, P.le Spedali Civili n. 1, 25100, Brescia, Italy.
Maurizia BaldiGenetic Laboratory Galliera Hospital Genova, Genoa, Italy.
Federico PrefumoPrenatal Diagnosis Unit, Department of Obstretics and Gynecology, ASST Spedali Civili of Brescia, Brescia, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveThe purpose of the paper was to assess the morphometric parameters to improve the specificity of the ultrasound (US) signs for the early differential diagnosis between two lethal dysplasias, as thanatophoric dysplasia (TD) and osteogenesis imperfecta type 2 (OI-2).

methodThe diaphyseal length and the bowed shape of long bones associated with vertebral body dimension assessment were investigated in a group of 14 pregnancy terminations carried out in the time period 2007-2013. The definitive diagnosis was established after pregnancy termination by means of skeletal standardized X-rays, histopathology and gene analysis.

resultsTD and OI-2 long bones were significantly shorter than controls. No significant differences were observed between the two dysplasias. The bowing angle was higher in OI-2; a true angulation or eventually axial displacement was present only in the latter. Furthermore, they did not show any evidence of vertebral collapse. The thanatophoric dysplasia presented less bowed long bones, and never true angulation. The spine was steadily characterized by flattened anterior vertebral bodies.

conclusionLong bone shortening is not a sufficient and accurate sign for early sonographic differential diagnosis between TD and OI-2. Angled diaphysis, axial diaphyseal displacement and a conserved vertebral body height in the prenatal period support the diagnosis of osteogenesis imperfecta type 2, while moderately regular bowed diaphysis associated with platyspondyly that of thanatophoric dysplasia.

Indexed as

Prenatal DiagnosisDiagnosis, DifferentialFemaleHumansOsteogenesis ImperfectaPhenotypePolymerase Chain ReactionPregnancyThanatophoric DysplasiaUltrasonography, PrenatalX-RaysComparative morphometryOsteogenesis imperfecta 2Short and bent long bonesThanatophoric dysplasia

Identifiers

PMID28674909

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