LAUSR

Raine syndrome (RS) is a rare autosomal recessive osteosclerotic bone dysplasia (Online Mendelian Inheritance in Man 259775) with an estimated prevalence of less than 1 per 1,000,000 and was first reported by Raine et al with characteristic features: microcephaly, nasal hypoplasia, prominent eyes, gum hyperplasia, cleft palate, and low-set ears. Radiographs showed diffuse sclerosis of the long bones and ribs, metaphyseal flaring, and a sclerotic skull base with an absent mandibular angle. So far, about 20 cases with this condition have been documented in the literature. We report on an additional case born to a nonconsanguineous couple and demonstrate the typical prenatal 2-dimensional and 3-dimensional (3D) ultrasound (US) findings and follow-up clinical exome of the patient. The patient was born to a 28-year-old mother, gravida 2, para 1, live birth 1, and 28-year-old father. The father and mother revealed no history of mental retardation, congenital abnormalities, or inherited conditions in either of their families. The pregnancy was initially uncomplicated, and there was no history of any medical maternal complications or exposure to teratogens. The initial firstand second-trimester screenings done at a primary center were unremarkable. A followup US examination done at 35 weeks’ gestation at the primary center showed abnormalities, for which she was referred to us for specialized US. There was appropriate fetal growth, with measurements consistent with 34.6 weeks’ gestation. There was microcephaly (head circumference, 29.4 cm [<5%]) with a cloverleaf appearance of the skull. Marked periventricular basal ganglia and white matter hyperechogenicity indicating calcifications was seen (Figure 1). The fetal thorax was marginally small (thorax-to-abdomen ratio, 80%) The long bones were appropriate in growth (femur, 6.9 cm [46%]; humerus, 5.8 cm [46%], and tibia, 5.6 cm [40%]), but the bones showed fractures with exuberant bone growth along the diaphyseal surface (osteosclerosis; Figure 2). A 3D bone window rendering of tibia showed a fracture and wavy appearance (osteosclerosis). Three-dimensional facial dysmorphologic features on a surface rendering showed striking appearances. It showed a markedly dysmorphic facial appearance (Figure 3) with midface hypoplasia, a small anteverted nose, proptosis, everted lips, a small triangular mouth, a long philtrum, a high arched palate, and hypertelorism. The fetal head showed turricephaly with a narrow forehead. The 3D bone window rendering showed premature fusion of the coronal sutures. The 3D facial appearances prepared the parents for the eventuality. There was a cesarean birth due to an obstetric indication of a previous lower-segment cesarean delivery, which resulted in a live-born female neonate. The patient at delivery presented with abnormal breath sounds, an abnormal facial shape, abnormally large fontanels, abnormalities of the primary teeth, a long philtrum, a high arched and grooved palate, a cleft soft palate, hypertrophic gums, absence of nasal cartilage with a depressed nasal bridge, choanal atresia, hypertelorism, proptosis, and low-set ears (Figure 4). Most of these features showed a striking similarity with the antenatal 3D US appearances of facial dysmorphologic features. An abnormality of the skull (cloverleaf skull and narrow forehead) was seen. Osteosclerosis was seen, with abnormal long-bone morphologic features, an abnormality of the lower-limb metaphysis, a fractured