brachydactyly
description
brachydactyly means shortening of the digits. this may be due to hypoplasia, aplasia or other abnormality of the phalanges, metacarpals or metatarsals.
diagnosis
brachydactyly may be an isolated familial or sporadic physical characteristic or it may be one of the features of a skeletal dysplasia or syndrome. it may also occur secondary to a teratogenic insult (the most concerning being following chorionic villous sampling). generally isolated mild brachydactyly is considered an incidental finding, but more severe forms may cause cosmetic and functional problems. the frequent association with short stature and other skeletal signs indicates that certain brachydactylies are in fact features of more generalized skeletal disorders. the classification of the different forms of brachydactyly is essentially descriptive, based on the bones most consistently or severely involved. bell has classified families with autosomal dominant brachydactyly into types a through e based on the osseous hand components mainly affected. the in utero diagnosis is generally made due to other associated skeletal and non-skeletal abnormalities (see associated syndromes listing – brachydactyly).
differential diagnosis
visualization may not be optimal and the diagnosis may be missed or not suspected.
sonographic features
short digits, resulting in short hands and/or feet
associated limb anomalies may also be present, including syndactyly, polydactyly, radial ray aplasia
associated syndromes
- acrodysostosis
- angelman
- antley-bixler
- apert
- auralcephalosyndactyly
- carpenter
- cartilage-hair hypoplasia
- chromosomal abnormality
- cleidocranial dysostosis
- cooper-jabs
- craniofrontonasal dysplasia
- crouzon
- cutis gyratum-acanthosis
- elsahy-waters
- fronto-facio-nasal dysplasia
- frontometaphyseal dysplasia
- hallerman-streiff
- kaufman
- kbg
- martsolf
- pfeiffer
- richieri-costa
- saethre-chotzen
- teebi
- tel hashomer camptodactyly
- thrombocytopenia-absent radius
- trimethadione, prenatal
- trisomy 21
- aarskog
- achondrogenesis syndromes
- achondroplasia
- acromesomelic dysplasia
- adams-oliver
- baller-gerold
- brachmann de lange
- brachydactyly syndromes ,various types (including e)
- carpenter (acrocephalo-polysyndactyly)
- cartilage-hair hypoplasia
- diastrophic dysplasia
- ellis-van creveld
- fryns
- grebe
- neu-laxova
- noonan
- oral-facial- digital type1 to-palato-digital type 11
- pallister-killian
- poland
- robinow
- short rib-polydactyly type 11 (majewski)
- smith-lemli-opitz
- trisomy 21
- warfarin embryopathy
references
- bronshtein m, stahl s, zimmer ez transvaginal sonographic diagnosis of fetal finger abnormalities in early gestation j ultrasound med 14: 591-596
- elejalde br, de elejalde mm the prenatal growth of the human body determined by the measurements of bones and organs by ultrasound am j med genet 24:575
- jeanty p, romero r, d’alton m, et al in utero sonographic detection of hand and foot deformities j ultrasound med 4:595
- temtamy sa the genetics of hand malformations alan r liss, new york
on brachydactyly and symphalangism treasury hum inherit; 5:1