Evidence map›Paper›PMID 28794913›Full record

ArticleJournal of pediatric genetics2017

Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa.

Sébastien Mbuyi-Musanzayi, Aimé Lumaka, Toni Lubala Kasole, Erick Kasamba Ilunga, Bienvenu Yogolelo Asani, Prosper Lukusa Tshilobo, Prosper Kalenga Muenze, Hervé Reychler, François Tshilombo Katombe, Koenraad Devriendt

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PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of pediatric genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
–field-weighted citation impact, top 100% 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

2 citing papers in PubMed, 1 synthesis or guideline pooled it, 0 citations in OpenAlex.

  1. Pooled it
  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

10 authors at 4 institutions in 2 countries.

Sébastien Mbuyi-MusanzayiDepartment of Surgery, University Hospital, University of Lubumbashi, Lubumbashi, DR Congo.
Aimé LumakaCenter for Human Genetics, University Hospital, Katholieke Universiteit Leuven, Leuven, Belgium.
Toni Lubala KasoleCenter for Human Genetics, Faculty of Medicine, University of Lubumbashi, Lubumbashi, DR Congo.
Erick Kasamba IlungaCenter for Human Genetics, Faculty of Medicine, University of Lubumbashi, Lubumbashi, DR Congo.
Bienvenu Yogolelo AsaniCenter for Human Genetics, Faculty of Medicine, University of Lubumbashi, Lubumbashi, DR Congo.
Prosper Lukusa TshiloboCenter for Human Genetics, University Hospital, Katholieke Universiteit Leuven, Leuven, Belgium.
Prosper Kalenga MuenzeCenter for Human Genetics, Faculty of Medicine, University of Lubumbashi, Lubumbashi, DR Congo.
Hervé ReychlerDepartment of Oral and Maxillofacial surgery, University Hospital, UC Louvain, Brussels, Belgium.
François Tshilombo KatombeDepartment of Surgery, University Hospital, University of Lubumbashi, Lubumbashi, DR Congo.
Koenraad DevriendtCenter for Human Genetics, University Hospital, Katholieke Universiteit Leuven, Leuven, Belgium.
University of Lubumbashi · CDUniversity of Kinshasa · CDKU Leuven · BEUCLouvain · BE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Wolf-Hirschhorn syndrome (WHS) is a multiple congenital anomaly-intellectual disability syndrome caused by a deletion involving chromosome 4p16.3. We report clinical and genetic findings of the first WHS patient diagnosed in central Africa. This boy who presented with cleft palate, microcephaly, severe growth delay, and intellectual disability was 12 years old. Typical craniofacial features were present, though the characteristic "Greek helmet" appearance of the nose was less evident, probably reflecting a variable expression related to the genetic background. The clinical diagnosis of WHS was confirmed by array CGH, which revealed a terminal 4p16.3 deletion of 3.47 Mb, typically associated with a milder phenotype, contributing to the long survival of this child in a developing country.

Indexed as

cleft palateintellectual disabilitysacral dimplessevere growth delayWolf-Hirschhorn syndrome

Identifiers

PMID28794913
PMCPMC5548528
OpenAlexW2521944811

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.