Is brachydactyly type Ballard a variant of brachydactyly type E?

Jensen, Kimberly; Hoo, Joe J.

doi:10.1002/ajmg.a.30159

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Types Of Isolated Brachydactyly1

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2017

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Cited by 2 publications

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“…The authors called this phenotype brachydactyly type Ballard after the name of the family. Jensen and Hoo [ 48 ] described a similar family but pointed out that the manifestations in both families strongly resembled type E brachydactyly and were likely to represent a variant form of this phenotype. In particular, they considered the condition in both families to be compatible with the E2 subtype, as suggested by Hertzog [ 44 ].…”

Section: Types Of Isolated Brachydactylymentioning

confidence: 99%

Brachydactyly

Temtamy

Aglan

2008

Orphanet J Rare Dis

142

148

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Brachydactyly ("short digits") is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. The various types of isolated brachydactyly are rare, except for types A3 and D. Brachydactyly can occur either as an isolated malformation or as a part of a complex malformation syndrome. To date, many different forms of brachydactyly have been identified. Some forms also result in short stature. In isolated brachydactyly, subtle changes elsewhere may be present. Brachydactyly may also be accompanied by other hand malformations, such as syndactyly, polydactyly, reduction defects, or symphalangism.

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Section: Types Of Isolated Brachydactylymentioning

confidence: 99%