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In Vivo Modeling of the Morbid Human Genome using Danio rerio
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Published on: August 24, 2013

Thanatophoric dwarfism.

U B Baekmark1, B Bliddal, M Lorentzen

  • 1Paediatric Department, Holding Hospital, and Institute of Pathology, Vejle Hospital, Denmark.

Acta Obstetricia Et Gynecologica Scandinavica
|January 13, 2011
PubMed
Summary
This summary is machine-generated.

Thanatophoric dwarfism, a rare skeletal dysplasia, was first identified in Scandinavia. Prenatal diagnosis is possible via ultrasound around 34 weeks, aiding management by preventing unnecessary interventions for this invariably fatal condition.

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Area of Science:

  • Medical Genetics
  • Prenatal Diagnosis
  • Skeletal Dysplasias

Background:

  • Thanatophoric dwarfism (TD) is a severe skeletal dysplasia.
  • First described as a distinct entity in 1967.
  • This report details the first documented case in Scandinavia.

Purpose of the Study:

  • To report the first case of thanatophoric dwarfism in Scandinavia.
  • To review clinical, radiological, ultrasonic, and histological findings.
  • To discuss diagnostic and management implications.

Main Methods:

  • Case report presentation.
  • Literature review of clinical, radiological, ultrasonic, and histological data.
  • Discussion of inheritance patterns and recurrence risks.

Main Results:

  • Detailed findings of the Scandinavian case are presented.
  • Literature survey highlights key diagnostic features.
  • Ultrasonic and radiological detection is feasible around 34 weeks gestation.

Conclusions:

  • Thanatophoric dwarfism remains a significant diagnostic challenge.
  • Prenatal detection via ultrasound and radiology is valuable for obstetric management.
  • While inheritance is presumed autosomal recessive with a 1:50 recurrence risk, definitive prenatal diagnosis for eugenic reasons is not possible.