Hormonal and Genetical Assessment of a Japanese Girl with Weaver Syndrome

We report a case of Japanese girl with a rare disorder of Weaver syndrome, which was characterized by overgrowth with advanced and disharmonic bone age, craniofacial abnormalities, developmental delay, metaphyseal flaring of the long bones and camptodactyly. The patient was delivered at 38 weeks of gestation with a length of 54.2 cm (+ 2.6 SD), a weight of 3805 g (+ 2.5 SD) and an occipitofrontal circumference (OFC) of 35.0 cm (+ 1.1 SD). She manifested hypertonia and flexion contractures in the first few years. She also had submucosal soft cleft palate and difficulty in swallowing and breathing in early infancy. When she was 5 years and 7 months old, her height and weight were 133.3 cm (+ 5.5 SD) and 32.0 kg (+ 5.1 SD), respectively. We could not detect any endocrinological abnormalities for the cause of overgrowth. According to clinical features, Weaver syndrome was suspected and genetical analysis was performed. Fluorescence in situ hybridization (FISH) and direct sequencing analysis showed neither deletion nor point mutation of the nuclear receptor SET-domain-containing protein 1 (NSD1) gene on 5q35, which is responsible for Sotos syndrome. Therefore, we made a diagnosis of Weaver syndrome for this patient and discussed the differential diagnosis in terms of overgrowth syndrome

〈Originals〉Treatment of trisomy 18 at 2 Japanese hospitals during a 10-year period

[Abstract] Introduction. Trisomy 18 is a chromosomal abnormality associated with a poor prognosis. It is difficult to determine the proper treatment for patients with trisomy 18 because of ethical considerations. Materials and methods. We encountered 29 infants with trisomy 18 between 2005 and 2015 at Kindai University Hospital and Kindai University Nara Hospital. Of these, 22 cases, which were treated at our hospitals since their neonatal period, were examined. Results. Of the 22 infants, 13 were male and 9 were female. In 4 cases, a definitive diagnosis of trisomy 18 was made antenatally. The median birth of the 22 infants weight was 1723 g. Ventricular septal defect was present in all infants, Esophageal atresia was noted in 7 patients and omphalocele was observed in 3 patients. Pulmonary artery banding was performed in 4 infants, and a tracheostomy was performed in 4 infants. Twelve infants were discharged at least once. Seventeen infants died, with a median age at death of 3 months. Three of the 5 surviving children are now older than 1 year. A tracheostomy was performed in all 3 children, while pulmonary artery banding was performed for 2 children. The oldest patient is now 7 years of age. Conclusion. Results of treatment of our patients suggest that reduction of pulmonary hypertension by pulmonary artery banding, tracheostomy, and gastrostomy can contribute to an improved prognosis and quality of life of patients with trisomy 18, although these outcomes vary because of concurrent anomalies