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Hand development in trisomy 21

M S Kjaer1, J W Keeling, E Andersen

  • 1Department of Orthodontics, School of Dentistry, University of Copenhagen, Denmark.

American Journal of Medical Genetics
|October 21, 1998
PubMed
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Fetal hand length is normal in early Down syndrome, but individual finger bones are shorter. Ossification sequence is normal, but bone appearance is delayed in fetuses with trisomy 21.

Area of Science:

  • Prenatal diagnosis
  • Fetal development
  • Genetics

Background:

  • Trisomy 21 (Down syndrome) is a common chromosomal abnormality.
  • Fetal hand and foot measurements are used in prenatal screening.
  • Understanding skeletal development in Down syndrome is crucial for diagnosis.

Purpose of the Study:

  • To assess hand size and skeletal maturity in fetuses with trisomy 21.
  • To compare fetal hand bone lengths with crown-rump length (CRL) and foot length (FL).
  • To evaluate the ossification sequence and morphology of hand bones in Down syndrome fetuses.

Main Methods:

  • Whole-body and specialized hand/foot radiography of 25 fetuses (CRL 55-222 mm).
  • Measurement of digital-metacarpal length (DML), proximal phalangeal length (PPL), and metacarpal length (MCL) of the third finger.

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  • Evaluation of bone appearance time, ossification sequence, and morphology.

    • Main Results:

    • Fetal hand length was normal in the first half of gestation.
    • Individual third finger bone lengths (DML, PPL, MCL) were reduced in Down syndrome fetuses.
    • The normal ossification sequence was maintained, but bone appearance was delayed.
    • The middle phalanx of the fifth finger, normally ossifying last, appeared late or not at all in 4 fetuses.

    Conclusions:

    • While overall hand length appears normal early in gestation, specific digital bone lengths are reduced in trisomy 21.
    • Delayed ossification of hand bones, particularly the fifth finger's middle phalanx, is characteristic of Down syndrome.
    • These findings may aid in the prenatal sonographic evaluation of fetal skeletal development in trisomy 21.