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Article

'Crommelin-type' symmetrical tetramelic reduction deformity: a new case and breakpoint mapping of a reported case with de-novo t(2;12)(p25.1;q23.3).

Clinical dysmorphology - 1 Jan 2010

Harewood Louise, Keeling Jean W, Fantes Judith A, Opitz John M, FitzPatrick David R

Abstract excerpt

We report a male fetus with symmetrical peromelic reduction of the upper limbs (missing distal, mesial and proximal elements) and symmetrical phocomelic reduction of the lower limbs (missing proximal and mesial elements) without other major malformations. We identified 11 previously reported cases with very similar features and have named this entity 'Crommelin-type' symmetrical tetramelic reduction deformity....

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Share to Chromosomes, Human, Pair 12
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19996735
DOI: 10.1097/MCD.0b013e328331ddbe

Genes

CMKLR1
ROCK2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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