Brachydactyly type B: a rare case report and literature review.

Mohannad Natheef AbuHaweeleh, Mohamed Badie Ahmed, Fatima Saoud Al-Mohannadi, Massoud Daw Mohamed, Abeer AlSherawi

Abstract readCase Reports

In one paragraph

Article in Journal of surgical case reports, 2024. 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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0citing papers in PubMed

–field-weighted citation impact

1 · What the graph read from it

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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.

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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Mohannad Natheef AbuHaweelehCollege of Medicine, QU Health, Qatar University, P.O. Box 2713, Doha, Qatar.ORCID https://orcid.org/0000-0002-6121-5158

Mohamed Badie AhmedCollege of Medicine, QU Health, Qatar University, P.O. Box 2713, Doha, Qatar.

Fatima Saoud Al-MohannadiPlastic Surgery Department, Hamad General Hospital, Hamad Medical Corporation, P.O. Box 3050, Doha, Qatar.

Massoud Daw MohamedPlastic Surgery Department, Hamad General Hospital, Hamad Medical Corporation, P.O. Box 3050, Doha, Qatar.

Abeer AlSherawiPlastic Surgery Department, Hamad General Hospital, Hamad Medical Corporation, P.O. Box 3050, Doha, Qatar.ORCID https://orcid.org/0009-0008-4356-0442

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Brachydactyly is a genetic condition leading to shortened or absent digits in hands or feet. It can occur independently or as part of syndromes. This case focuses on Brachydactyly type B, the rarest form. An 8-month-old from the Philippines was referred due to a missing third toe. Examination revealed a hypoplastic left third toe. X-rays confirmed the finding. Treatment options were discussed, including conservative therapy and follow up. Diagnosis involved history, examination, and imaging. Prenatal diagnosis is limited for isolated cases but useful for syndromic forms if a family mutation is known. Prognosis varies depending on the severity and associated syndromes. Currently there is no definitive treatment; management involves genetic counseling and therapy. Due to limited cases, Type B is underreported, highlighting the need for more research into its genetics.

Indexed as

brachydactyly type Bbrachymetatarsiacongenital anomalyhypoplastic digits

Identifiers

PMID38826861

DOI10.1093/jscr/rjae376

PMCPMC11141291

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