Index of Suspicion in the Nursery

Abstract

A 36-week-old male infant appropriate for gestational age is born via induced vaginal delivery to a 28-year-old, gravida 2, para 2 woman. Labor was induced early because of polyhydramnios and short, bowed long bones evident on fetal ultrasonography at 19 weeks’ gestation. Other fetal findings on ultrasonography included bilateral talipes equinovarus and absent nasal bone; no intracranial abnormalities were identified. Fetal echocardiography performed at 19 weeks’ gestation revealed no evidence of structural or functional cardiac abnormalities. The result of prenatal fluorescence in situ hybridization evaluation was negative for trisomy 13, 18, and 21. Other prenatal laboratory tests performed were comparative genomic hybridization microarray, which revealed no clinically significant imbalances, and α-fetoprotein measurement, which revealed a level that was 0.7 multiple of the median (reference range, <2.0 multiple of the median). At birth, the infant has poor respiratory effort and requires intubation and mechanical ventilation. Apgar scores are 5 and 6 at 1 and 5 minutes, respectively. Physical examination findings are significant for widely split cranial sutures, soft skull bones, facial bruising, excessive plantar flexion of both feet, and contractures of all 4 extremities. Skin dimples are present in all 4 distal extremities (Figure 1). Figure 1. Infant with skeletal dysplasia with bowing and contractures of the extremities and excessive plantar flexion of the feet. By 24 hours after delivery, the infant begins breathing spontaneously and is weaned to room air. Skeletal survey findings reveal decreased bone mineralization, particularly in the skull, and diffuse metaphyseal dysplasia with bowing deformity in the extremities, radial spurs, and dysplastic ribs (Figure 2). Echocardiography results are negative for structural or functional …