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Lethal Alleles

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...

Bone Disorders

Bone Disorders

Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...

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Scanning Skeletal Remains for Bone Mineral Density in Forensic Contexts

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[Lethal osteogenesis imperfecta: antenatal diagnosis].

Houda El Mhabrech¹, Ahmed Zrig², Ines Mazhoud¹

¹Service d'Imagerie Médicale B, Centre de Maternité et de Néonatologie de Monastir, Université de Monastir, CHU Fattouma Bourguiba Monastir, Tunisie.

The Pan African Medical Journal

|March 16, 2017

Summary

Lethal osteogenesis imperfecta (OI), a severe bone fragility disorder, presents with micromelia and limb deformities. Prenatal diagnosis via ultrasound and CT scanning led to recommendations for therapeutic abortion in two severe cases.

Keywords:

Lethal osteogenesis imperfecta Pathology antenatal diagnosis fetal skeletal CT scan ultrasound

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Area of Science:

Genetics
Medical Imaging
Prenatal Diagnosis

Background:

Osteogenesis imperfecta (OI) is a group of genetic disorders impacting type I collagen, leading to brittle bones.
Lethal forms of OI are rare and often manifest with severe micromelia and limb deformities.

Observation:

Two cases of lethal OI were diagnosed prenatally.
Diagnostic tools included ultrasound at 17 and 25 weeks gestation and fetal skeletal CT scanning in one instance.

Findings:

Prenatal diagnosis confirmed lethal osteogenesis imperfecta in both fetuses.
The observed features included significant micromelia and limb deformities.

Implications:

Early and accurate prenatal diagnosis of lethal OI is crucial for informed reproductive decision-making.
Advanced imaging techniques like fetal skeletal CT enhance diagnostic capabilities for severe skeletal dysplasias.