Acromesomelic dysplasia (AMD) refers to a group of rare, progressive skeletal disorders characterized by short-limbed dwarfism and disproportionate shortening of the middle and distal segments of both the upper and lower limbs. These skeletal anomalies, while difficult to diagnose antenatally, have significant implications both before and after birth. Detecting such anomalies early on is crucial, not only for managing the current pregnancy but also due to the potential for recurrence in subsequent pregnancies. This makes prenatal screening and diagnosis essential for families with a history of skeletal dysplasia. The classification of specific congenital skeletal dysplasias like AMD requires a combination of radiologic, pathologic, genetic, and molecular investigations, conducted both prenatally and postnatally. Once the genetic makeup responsible for fetal skeletal dysplasia is identified, genetic counseling can be offered to the family, providing crucial information about the recurrence risk in future pregnancies.
In this report, we describe the case of a primigravida who was diagnosed with fetal unilateral upper limb acromesomelic dysplasia (AMD) during an antenatal ultrasound performed in the early second trimester. The ultrasound revealed that the radius and ulna of the fetus’s left upper limb were abnormally short, measuring below the 5th percentile for the corresponding gestational age. Additionally, the left hand appeared hypoplastic, a clear indication of abnormal limb development. However, the rest of the sonographic anomaly scan showed no other abnormalities, and the pregnancy was otherwise progressing normally. To our knowledge, this is the first reported case in the medical literature of AMD limited to a unilateral upper limb diagnosed antenatally as an isolated finding. This case underscores the importance of prenatal ultrasound in detecting rare skeletal anomalies, facilitating timely intervention and offering meaningful genetic counseling for affected families.
