Delayed diagnosis of skeletal dysplasia in a girl with cartilage-hair hypoplasia.

Petra Loid, Eleni P Kotanidou, Vasiliki Rengina Tsinopoulou, Assimina Galli-Tsinopoulou, Outi Mäkitie

Abstract readCase Reports

In one paragraph

Article in JCEM case reports, 2026. 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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0cells of the map it votes in

0citing 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

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3 · Its place in the literature

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0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Petra LoidChildren's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki 00290, Finland.ORCID https://orcid.org/0000-0002-2708-0878

Eleni P Kotanidou2nd Department of Pediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, AHEPA University General Hospital, Thessaloniki 54636, Greece.

Vasiliki Rengina Tsinopoulou2nd Department of Pediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, AHEPA University General Hospital, Thessaloniki 54636, Greece.

Assimina Galli-Tsinopoulou2nd Department of Pediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, AHEPA University General Hospital, Thessaloniki 54636, Greece.

Outi MäkitieChildren's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki 00290, Finland.ORCID https://orcid.org/0000-0002-4547-001X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Short stature is the most common reason for endocrinological investigations during childhood. With the expanding spectrum of recognized genetic causes for abnormal growth, establishing the correct diagnosis is often challenging. We present a 12-year-old girl who was first evaluated for short stature (<3rd percentile) and short fingers at age 2 years. Skeletal radiographs showed mild long bone metaphyseal abnormalities. She had slightly thin hair, unilateral elbow dislocations, and genu varum but no hematologic abnormalities or signs of immunodeficiency. Growth hormone testing and other endocrine investigations were normal. At age 12 years, when her height was -3.0 SD score, skeletal dysplasia was considered, and genetic testing revealed compound heterozygosity for 2

Indexed as

cartilage hair hypoplasiachondrodysplasiadiagnosisshort stature

Identifiers

PMID42058700

DOI10.1210/jcemcr/luag102

PMCPMC13122024

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