Evidence map›Paper›PMID 36747187›Full record

ArticleBMC psychiatry2023

Conradi-Hünerman-Happle Syndrome and Obsessive-Compulsive Disorder: a clinical case report.

Sabrina de Jesus, Ana Lúcia R Costa, Mónica Almeida, Paula Garrido, João Alcafache

Open access · goldAbstract readCase Reports
In one paragraph

Article in BMC psychiatry, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.3field-weighted citation impact, top 38% of its field
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

0 citing papers in PubMed, 2 citations in OpenAlex.

No citing paper in PubMed yet.

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

5 authors at 1 institution in 1 country.

Sabrina de JesusDepartament of Psychiatry and Mental Health, Baixo Vouga Hospital Center, Aveiro, Portugal. sabrina.von.jesus@gmail.com.
Ana Lúcia R CostaDepartament of Psychiatry and Mental Health, Baixo Vouga Hospital Center, Aveiro, Portugal.
Mónica AlmeidaDepartament of Psychiatry and Mental Health, Baixo Vouga Hospital Center, Aveiro, Portugal.
Paula GarridoDepartament of Psychiatry and Mental Health, Baixo Vouga Hospital Center, Aveiro, Portugal.
João AlcafacheDepartament of Psychiatry and Mental Health, Baixo Vouga Hospital Center, Aveiro, Portugal.
Centro Hospitalar do Baixo Vouga · PT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundObsessive-Compulsive Disorder (OCD) is a common and chronic psychiatric disorder with significant morbidity characterized by intrusive, uncontrollable and reoccurring thoughts (i.e., obsessions) and/or ritualistic behaviours (i.e., compulsions). Conradi-Hünerman-Happle Syndrome (CHHS) is a rare inherited X-linked dominant variant of chondrodysplasia punctata, a heterogeneous group of rare bone dysplasias characterized by punctate epiphyseal calcifications of complex etiology and pathophysiology that remain to be defined. Available literature reveals a lacuna in regards to the coexistence of the entities with no clinical reports described. CASE PRESENTATION: A 12 year old female patient with diagnosis of CHHS, presents to psychiatric consultation due to aggravation of her OCD clinical picture, with aggravation of hand-washing frequency during the Covid-19 pandemic with significant functional impact. Psychopharmacological treatment aimed at OCD with Selective Serotonin Reuptake Inhibitor (SSRI) and antipsychotic was instituted with favourable, albeit partial response.

conclusionsThe authors aim to describe a clinical case in which the patient presents with Conradi-Hünerman-Happle Syndrome and Obsessive-Compulsive Disorder. Clinical descriptions of CHHS and OCD are not available in the literature. Through this case description the authors aim to present a rare case as well as discuss an eventual association between etiology and/or pathophysiology of the two disorders.

Indexed as

Chondrodysplasia PunctataCOVID-19Obsessive-Compulsive DisorderChildCompulsive BehaviorFemaleHumansPandemicsChondrodysplasia punctataComorbidityEtiologyObsessive compulsive disorderRare disease

Identifiers

PMID36747187
PMCPMC9900547
OpenAlexW4319317770

What OpenQuestion holds

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Registered trials

None linked

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.