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Related Experiment Videos

Atelosteogenesis type II: sonographic and radiological correlation.

J A Nores1, S Rotmensch, R Romero

  • 1Department of Obstetrics and Gynecology, Yale University School of Medicine, New Haven, CT 06510.

Prenatal Diagnosis
|September 1, 1992
PubMed
Summary
This summary is machine-generated.

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Atelosteogenesis type II, a lethal skeletal dysplasia, can be diagnosed prenatally using ultrasonography. This study details key sonographic findings and confirms its autosomal recessive inheritance pattern.

Area of Science:

  • Medical Genetics
  • Skeletal Dysplasias
  • Prenatal Diagnosis

Background:

  • Atelosteogenesis type II is a lethal chondrodysplasia.
  • Characterized by severe micromelia, spinal abnormalities, talipes equinovarus, and abducted thumbs/toes.

Observation:

  • Presents a case diagnosed at 21 weeks gestation.
  • Correlated antenatal sonographic and post-mortem radiological findings.
  • Recurrence in a subsequent pregnancy supported autosomal recessive inheritance.

Findings:

  • Demonstrates feasibility of diagnosing morphological features via prenatal ultrasonography.
  • Identified features include vertebral clefts, metaphyseal/epiphyseal abnormalities, spinal deviations (cervical kyphosis, horizontal sacrum), pelvic ossification centers, and preaxial digit deviation.

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  • Discusses differential diagnosis from other skeletal dysplasias.

    • Implications:

    • Prenatal diagnosis of Atelosteogenesis type II is feasible.
    • Ultrasonography can identify specific skeletal abnormalities.
    • Understanding inheritance patterns aids genetic counseling.