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Isolated complex limb reduction abnormality diagnosed antenatally

D E Rizk1, A Bates, J Evans

  • 1Department of Obstetrics and Gynaecology, Llandough Hospital, South Glamorgan, Cardiff, United Kingdom.

European Journal of Obstetrics, Gynecology, and Reproductive Biology
|October 1, 1993
PubMed
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This study reports a rare case of congenital limb reduction defects affecting the same side of both upper and lower limbs. Early ultrasound diagnosis identified limb anomalies, with micrognathia as the sole associated finding post-termination.

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Prenatal Diagnosis

Background:

  • Congenital limb reduction defects are uncommon birth anomalies, often presenting with other malformations.
  • Terminal defects represent the most frequent type of limb reduction anomalies.
  • The etiology of these defects is considered multifactorial.

Observation:

  • A case of congenital terminal deficiency affecting ipsilateral upper and lower limbs was diagnosed via second-trimester ultrasound.
  • The fetus exhibited an absent right fibula and foot, a hypoplastic right hand, and a left talipes equinovarus.
  • The pregnancy was terminated, and postmortem examination revealed micrognathia as the only associated anomaly.

Findings:

  • The specific cause of this isolated limb anomaly remains undetermined.

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  • The presentation aligns with the variable spectrum of congenital limb reduction defects documented in medical literature.
  • This case highlights the diagnostic capabilities of ultrasound in identifying complex fetal malformations.

    • Implications:

    • Further research into the multifactorial etiology of limb reduction defects is warranted.
    • Understanding the diverse presentations of these anomalies aids in genetic counseling and management.
    • This case contributes to the literature on rare congenital malformations and their prenatal detection.