Antenatal unilateral upper limb acromesomelic dysplasia

Area of Science:

• Medical Genetics
• Prenatal Diagnosis
• Skeletal Dysplasias

Background:

• Acromesomelic dysplasia (AMD) encompasses a group of skeletal disorders characterized by disproportionate limb shortening.
• Antenatal diagnosis of specific skeletal anomalies is challenging but crucial due to implications for pregnancy and recurrence risk.
• Accurate classification requires integrated radiologic, pathologic, genetic, and molecular investigations.

Purpose of the Study:

• To report a rare case of fetal unilateral upper limb acromesomelic dysplasia diagnosed during early second-trimester antenatal ultrasound.
• To emphasize the importance of detailed fetal anomaly scans for identifying rare skeletal dysplasias.
• To contribute to the understanding of AMD presentation and its implications for genetic counseling.

Main Methods:

• Antenatal ultrasound examination in the early second trimester.
• Detailed sonographic anomaly scan to assess fetal skeletal development.
• Review of medical literature for similar reported cases.

Main Results:

• Diagnosis of fetal unilateral upper limb AMD in a primigravida.
• Significant shortening of the left radius and ulna (below the 5th centile) and hypoplasia of the left hand.
• The remainder of the fetal anomaly scan was normal, indicating an isolated finding.

Conclusions:

• This case represents a potentially novel presentation of acromesomelic dysplasia, limited to a unilateral upper limb and diagnosed prenatally.
• Early and accurate diagnosis of fetal skeletal anomalies is vital for appropriate management and genetic counseling.
• Further research is needed to understand the genetic basis and long-term outcomes of such isolated presentations.