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Related Concept Videos

Compact Bone01:27

Compact Bone

Most bones contain compact and spongy osseous tissue, but their distribution and concentration vary based on the bone's overall function.
Compact bone, also called cortical bone, is the denser, stronger of the two types of bone tissue. It is found under the periosteum and in the diaphyses of long bones, where it provides support and protection. The microscopic structural unit of compact bone is called an osteon, or haversian system. Each osteon is composed of concentric rings of calcified...
Bone Formation by Intramembranous Ossification01:29

Bone Formation by Intramembranous Ossification

Intramembranous ossification is one of the two processes involved in the development of bones within an embryo. The flat bones of the face, most of the cranial bones, and the clavicles are formed via this process. During intramembranous ossification, the bones develop directly from sheets of undifferentiated mesenchymal connective tissue.
The process begins when mesenchymal cells in the embryonic skeleton gather together and differentiate into osteogenic cells, which then develop into...
Bone Disorders01:29

Bone Disorders

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Fractures: Bone Repair01:27

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[Increased nuchal translucency in osteogenesis imperfecta].

Bitten Schönewolf-Greulich1, Lillian Skibsted, Lisa Leth Maroun

  • 1Kennedy Centret, Genetisk Rådgivningsklinik, Gl. Landevej 6, 2600 Glostrup, Denmark. bsc@kennedy.dk

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|April 2, 2011
PubMed
Summary

Increased nuchal translucency (NT) in fetuses may indicate a higher risk of osteogenesis imperfecta (OI). This case highlights the importance of genetic evaluation and follow-up for this rare skeletal dysplasia.

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Area of Science:

  • Medical Genetics
  • Prenatal Diagnosis
  • Skeletal Dysplasias

Background:

  • Osteogenesis imperfecta (OI) is a group of genetic disorders characterized by fragile bones.
  • Previous reports suggest a potential association between increased nuchal translucency (NT) and OI.

Observation:

  • A 13-week gestation ultrasound revealed an increased nuchal translucency (NT) of 3.2 mm.
  • No other fetal abnormalities were detected at the initial 13-week scan.
  • A subsequent 20-week ultrasound diagnosed severe skeletal dysplasia.

Findings:

  • The aborted fetus was diagnosed with osteogenesis imperfecta (OI) post-mortem.
  • Genetic analysis confirmed a mutation in the COL1A1 gene, a common cause of OI.

Implications:

  • This case reinforces the association between increased NT and osteogenesis imperfecta (OI).
  • It underscores the necessity for thorough genetic evaluation and prenatal follow-up when increased NT is observed.
  • Early identification through genetic testing can inform clinical management and genetic counseling.