Growth Hormone Deficiency due to p.(Gln467Argfs*64) Mutation in the ARID1B Gene in a Girl with Coffin-Siris Syndrome.

Introduction: Coffin-Siris syndrome (CSS) (MIM #135900) is an extremely rare genetic multisystemic disorder characterized by aplasia or hypoplasia of the upper phalanx of the fifth finger, moderate to severe cognitive and/or developmental delay, and characteristic facial features (thick lashes, hypertrichosis of the trunk, sparse hair). Congenital anomalies of the brain, kidney, and heart have been described but are less consistent across patients. Case presentation: We report a case of a 12-year-5-month-old girl with the clinical features of CSS, severe scoliosis, and epilepsy. Growth hormone deficiency was diagnosed at the age of 9 years. Recombinant human growth hormone (rhGH) treatment was started that resulted in a significant improvement of the growth velocity up to 5.4 cm/year (>90-97th centile). Next-generation sequencing identified a mutation in the ARID1B gene. Discusion: Despite its phenotypic heterogeneity, key features of CSS have become clearer and along with molecular diagnosis, a further global approach to improve the care of these individuals is enabled. Appropriate therapies for this population are needed to optimize growth and intellectual potentials.

Idiopathic Scoliosis Prevalence Is 5 Times Less in Roma Than Greek Children and Adolescents.

STUDY DESIGN: Serial screening of Roma children for idiopathic scoliosis. OBJECTIVE: To confirm or reject the observation that the prevalence of scoliosis is reduced in the Roma population and possibly to explain it. MATERIALS AND METHODS: The authors conducted serial screening for idiopathic scoliosis of 1,034 indigenous Roma children (542 boys and 492 girls), aged 4-18 years (857 children were aged 8-18 years) from 1997 to 2011. Age, height, weight, body mass index, years of schooling, and menarche for girls were recorded. Children were clinically examined for body asymmetries and a standing posteroanterior spinal radiograph was obtained in selected cases. RESULTS: Sixty Roma children (6%) had clinical humps. Single humps, according to location, were mostly benign and not related to progressive scoliotic curves. In children with right thoracic humps a left lumbar component could be overlooked. Of 60 children, only 4 (3 girls and 1 boy) with right thoracic and left lumbar or thoracolumbar humps had true progressive scoliotic curves with greater than 10° Cobb angle (prevalence rate, 0.35%). This is 5 times less than the rate of 1.5% in Greek children. One of these 4 children was young and had possible congenital scoliosis; the other 3 were early adolescents. CONCLUSIONS: A substantial difference in the prevalence of scoliosis between Roma and Greek children was documented. The usual percentage of adolescent scoliosis found in the Greek population (approximately 15-17 cases/1,000 children) was not seen in this sample of Roma children.