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Terminal transverse limb defects with "nubbins".

Lewis B Holmes1,2, Hanah Z Nasri1

  • 1Medical Genetics and Metabolism Unit, MassGeneral Hospital for Children, Boston, Massachusetts, USA.

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|July 9, 2021
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Summary

Terminal transverse limb defects, characterized by limb absence, are uncommon in newborns. Many infants exhibit digit-like nubbins, possibly indicating regeneration after early developmental vascular issues.

Keywords:
terminal transverse limb defectstiny digit-like nubbins

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Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Pediatric Surgery

Background:

  • Terminal transverse limb defects involve the absence of forearm and hand, or just the hand, in newborns.
  • This uncommon limb deformity is often accompanied by digit-like nubbins on the limb stump.
  • These nubbins may suggest attempted regeneration following early developmental vascular obstruction.

Purpose of the Study:

  • To identify and characterize terminal transverse limb defects in a large newborn cohort.
  • To investigate potential causes and associated anomalies in affected infants.
  • To improve diagnostic accuracy and counseling for this condition.

Main Methods:

  • Analysis of data from a malformations surveillance program (1972-2012) involving 289,365 births.
  • Identification of 194 infants with limb deficiency, including 28 with terminal transverse limb defects.
  • Examination of placental tissues and genetic analysis for associated chromosomal abnormalities.

Main Results:

  • Twenty-eight infants were diagnosed with terminal transverse limb defects.
  • Twenty-four of these infants presented with digit-like nubbins (0.5 cm) on the limb stump.
  • Three infants had associated chromosomal abnormalities: trisomy 21, 11q deletion, and 22q11.2 deletion.

Conclusions:

  • Terminal transverse limb defects result from impaired early limb development.
  • Accurate diagnosis at birth or via ultrasound is crucial for effective counseling.
  • Distinguishing this condition from amniotic band syndrome prevents misdiagnosis and improves patient care.