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Embryology of familial (non-syndromic) brachydactyly of the hand
Journal article   Peer reviewed

Embryology of familial (non-syndromic) brachydactyly of the hand

M M Al-Qattan
The Journal of hand surgery, European volume, Vol.39(9), pp.926-933
01/11/2014
DOI: https://doi.org/10.1177/1753193413514363
PMID: 24300509

Abstract

Brachydactyly - classification Brachydactyly - diagnostic imaging Brachydactyly - embryology Brachydactyly - genetics DNA Mutational Analysis Female Fingers - abnormalities Fingers - diagnostic imaging Fingers - embryology Gestational Age Growth Differentiation Factor 5 - genetics Hand Deformities, Congenital - classification Hand Deformities, Congenital - diagnostic imaging Hand Deformities, Congenital - embryology Hand Deformities, Congenital - genetics Homeodomain Proteins - genetics Humans Infant, Newborn Phenotype Pregnancy Radiography Transcription Factors - genetics
Isolated familial non-syndromic brachydactyly is interesting from the embryological point of view because the phenotypes of isolated brachydactyly are frequently overlapping, yet they are caused by different gene mutations and the ring finger is frequently relatively preserved. We review the embryology of isolated familial brachydactyly with special attention to these two features.

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