Case 1: A Newborn with Absence of Right Forearm, Preauricular Pit, and an Infantile Hemangioma

Abstract

A female infant is born at 35 weeks’ gestation to a 19-year-old Hispanic woman and a 21-year-old Hispanic man. The infant has a birthweight of 2,710 g (10th–25th percentile), length of 46.5 cm (10th–25th percentile), and head circumference of 34.1 cm (10th–25th percentile). Apgar scores at 1 and 5 minutes are 9 and 9, respectively. Her physical examination is remarkable for bilateral ear pits, absence of distal two-thirds of the right forearm and hand, and a stump with rudimentary fingers (Fig 1). Good range of motion was observed at the right elbow and shoulder. The left upper extremity and both lower extremities are normal. All her limbs have a good range of motion. No other dysmorphic features are present and the rest of her physical examination findings are unremarkable. A right extremity radiograph shows congenital absence of the right hand, with hypoplastic right forearm bones and a normal right humerus (Fig 2). Her nursery stay is uneventful and the patient is discharged with her mother. Figure 1. Physical findings seen in our patient. A. Hypoplastic right arm with absence of distal two-thirds of the right forearm and hand, with rudimentary fingers. B. Bilateral preauricular pits that were also present in the patient’s father. C. A superficial hemangioma in the vaginal area. Figure 2. A right arm radiograph shows congenital absence …