Evidence map›Paper›PMID 36315400›Full record

ArticleJournal of ultrasound2023

Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata.

Reza Gerami, Shoresh Barkhordari

Abstract readCase Reports
In one paragraph

Article in Journal of ultrasound, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Fetal chondrodysplasia punctata: a clinical study of five cases.American journal of translational research · 2026
    Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors.

Reza GeramiDepartment of Radiology, Faculty of Medicine, Army University of Medical Science (AJA University of Medical Science), Tehran, Iran.
Shoresh BarkhordariSchool of Medicine, Army University of Medical Science (AJA University of Medical Science), Tehran, Iran. Shoreshb81@gmail.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundRhizomelic chondrodysplasia punctata (RCDP) is a rare autosomal recessive inherited subtype of a family of congenital anomalies known as chondrodysplasia calcificans punctate (CCP). Given their low rate of occurrence, these cases are highly challenging to diagnose, and because the presence of chondrodysplasia is an indication for legal abortion in Iran, such diagnosis is extremely critical. CASE PRESENTATION: A 27-year-old white multipara was referred for obstetric ultrasonography at 17 weeks and 6 days of gestation because an ultrasonographic study performed at an outside institution revealed a short femur length. Given the patient's positive family history of chondrodysplasia, she underwent targeted sonography to check the anomaly of the bone and cartilage. The key finding in the sonography was short bones for gestational age.

conclusionThe important clue in this finding was the patient's family history, which made the gynaecologist request an ultrasound to prevent the birth of a child with a congenital disorder. Genetic tests are usually performed on amniocentesis samples. Because the presence of chondrodysplasia is an indication for legal abortion in Iran, finally, the patient underwent legal abortion after amniocentesis and genetic tests.

Indexed as

Chondrodysplasia Punctata, RhizomelicAdultChildFemaleGenetic TestingHumansPregnancyPrenatal DiagnosisUltrasonographyUltrasonography, PrenatalAntenatalRhizomelic chondrodysplasia punctateUltrasound

Identifiers

PMID36315400
PMCPMC10247581

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.