Short limb dwarf lethal Mcalister–Crane type

Short limb dwarf lethal Mcalister–Crane type is a rare genetic disorder characterized by severely shortened limbs, underdeveloped lungs, and other skeletal abnormalities. This condition falls under the broader category of dwarfism but is distinguished by its lethal outcome, typically in the prenatal or immediate postnatal period. The disorder is named after the researchers Mcalister and Crane, who first described it.

Etiology

The exact genetic cause of Short limb dwarf lethal Mcalister–Crane type remains largely unknown due to its rarity. However, it is believed to involve mutations in genes responsible for bone growth and development. This condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Pathophysiology

The primary feature of Short limb dwarf lethal Mcalister–Crane type is the significant disruption in the normal development of the skeletal system. The mutations affect the growth plates of the bones, leading to severely shortened limbs. Additionally, the underdevelopment of the lungs is a critical issue, as it often leads to respiratory failure in affected newborns.

Clinical Features

Individuals with Short limb dwarf lethal Mcalister–Crane type exhibit:

• Severely shortened arms and legs
• Narrow chest cavity, leading to underdeveloped lungs
• Possible additional skeletal abnormalities such as a small pelvis and skull deformities

Due to the severe underdevelopment of the lungs, most affected infants experience significant respiratory distress, which is often fatal.

Diagnosis

Diagnosis of Short limb dwarf lethal Mcalister–Crane type is typically made through prenatal imaging studies such as ultrasound, where the shortened limbs and other skeletal abnormalities can be detected. Further genetic testing may be conducted to confirm the diagnosis, although the specific genetic markers are not well-defined.

Management and Prognosis

Management of Short limb dwarf lethal Mcalister–Crane type focuses on supportive care, as there is no cure for the condition. The prognosis for individuals with this disorder is poor, with most affected infants dying shortly after birth due to respiratory failure.

See Also

• Dwarfism
• Genetic disorder
• Autosomal recessive inheritance
• Prenatal diagnosis

Short limb dwarf lethal Mcalister–Crane type Resources
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