A case report of sporadic (tetra) phocomelia and unilateral isolated upper limb phocomelia: An antenatal ultrasonography of an extremely rare congenital anomaly

Abstract

Phocomelia is a severe and a rare form of limb defect in which the limbs are not formed completely. It affects the growth and development of musculoskeletal system leading to grossly underdeveloped or absent limb. It may be inherited as autosomal-dominant or recessive-disorder. We are presenting two cases of phocomelia, Case 1: A 28-year-old primigravida presented to our hospital with the history of irregular menstrual cycles for which she was advised ultrasound-pelvis which revealed a 21-week 6days fetus. An antenatal-ultrasound was performed to rule of anatomical anomalies which showed symmetrical shortening of all four limbs with no other congenital anomalies. Because of her irregular cycles, the patient was unaware of her last-menstrual date and she reports spontaneous conception and also gives a history of first-degree consanguineous marriage. Due to the lack of significant history or any other associated symptoms, our case did not fit into any syndromic phocomelia and appears to be the result of sporadic phocomelia involving all four limbs or an isolated limb. Case 2: An ultrasonogram was done at 12 weeks 2 days gestational age in 24-year-old with obstetric history of Gravida-3 Para-1 Abortion-1 who presented to our hospital for regular first-trimester antenatal check-up. Ultrasound finding showed absent left radius and ulna with the deformed hand attached to the left humerus. Both patients had no family history of any congenital anomaly or infections during pregnancy, no history of any drug intake or exposure to fertilizers or pesticides. There is no relevant medical or surgical history.