Case 1: Microcephaly, Skeletal Dysplasia, and Immunodeficiency in a Newborn.

Abstract

1. Tarek Belal, MD* 2. Debra-Lynn Day-Salvatore, MD, PhD, FAAP, FACMG† 3. Janet Malcolmson, MS, LGC† 1. *Pediatric Hospitalist, Mount Washington Pediatric Hospital, Baltimore, MD 2. †Department of Medical Genetics and Genomic Medicine, Saint Peter’s University Hospital, New Brunswick, NJ A newborn is admitted to the NICU for evaluation given abnormal prenatal ultrasonography findings of small for gestational age and shortened long bones. He was born at 39+1 weeks' gestation to a nonconsanguineous, healthy, 32-year-old gravida 2, para 1 mother and a healthy 33-year-old father by elective cesarean delivery. The pregnancy and labor were normal. No invasive testing was performed prenatally. Apgar scores were 9 and 9 at 1 and 5 minutes, respectively. The maternal family history is remarkable for endometrial cancer in the grandmother and mesothelioma and prostate cancer in the great-grandfather. A paternal great-aunt had breast cancer and the paternal great-grandmother had ovarian cancer. The couple has a healthy 3-year-old daughter. Physical examination is notable for head circumference of 31.5 cm (<3rd percentile), weight of 2,955 g (16th percentile), length of 47.5 cm (18th percentile), mild shortening of proximal long bones more notable in upper than lower extremities, and shortening of digits. Physical examination findings are otherwise normal. Skeletal survey radiographs show rhizomelic shortening of long bones (Fig 1), metaphyseal cupping of the proximal humeri, distal femora, radii, ulni (Fig 2), tibulae and fibulae, trident acetabula (Fig 3), and hypoplastic metacarpals (Fig 4). The state newborn screen returns positive for severe combined immunodeficiency (SCID) later classified as leaky SCID with further lymphocyte …