[Schinzel-Giedion syndrome: a new mutation in SETBP1]. / Síndrome Schinzel-Giedion: nueva mutación en SETBP1.

Schinzel-Giedion syndrome (SGS) (#MIM 269150) is a rare genetic disorder characterized by very marked craniofacial dysmorphism, multiple congenital anomalies and severe intellectual disability. Most affected patients die in early childhood. SETBP1 was identified as the causative gene, but a limited number of patients with molecular confirmation have been reported to date. The case is reported of a 4 and a half year-old male patient, affected by SGS. SETBP1 sequencing analysis revealed the presence of a non-previously described mutation: c.2608G>T (p.Gly870Cys). The clinical features and differential diagnosis of this rare condition are reviewed. Dysmorphic features are strongly suggestive of SGS. Its clinical recognition is essential to enable an early diagnosis, a proper follow-up, and to provide the family with genetic counseling. To date, this is the seventeenth SGS patient published with SETBP1 mutation, and the first in Spain, helping to widen clinical and molecular knowledge of the disease.

[Epidemiology, clinical features and medical interventions in children hospitalized for bronchiolitis]. / Características epidemiológicas, clínicas y terapéuticas de lactantes hospitalizados por bronquiolitis.

OBJECTIVES: To describe the epidemiology, clinical characteristics and treatments prescribed in children with bronchiolitis admitted to our hospital. MATERIAL AND METHODS: Observational, descriptive and prospective study of children younger than 18 months, admitted to Hospital Virgen de la Arrixaca of Murcia (Spain), with the diagnosis of bronchiolitis, during the season of maximum incidence (December 2008-April 2009). RESULTS: A total of 235 infants were admitted, of whom 78.7% of them were aged 5 months or less. We found a positive correlation between the number of cigarettes smoked by their mothers during pregnancy and the number of hospitalization and oxygen therapy days. Children whose mothers were smokers at the time of their admission needed a greater number of oxygen therapy days. Also infants who were not breastfed needed oxygen therapy during more days. Just under one quarter (23.8%) of them had underlying diseases, with prematurity being the most frequent and a risk factor for the ongoing of oxygen therapy and hospital stay. The use of diagnostic tests, bronchodilators, corticosteroids and antibiotics was high. The onset of high temperature was associated with an increased use of antibiotics in outside and inside the hospital setting. An abnormal chest X-ray or a raised C-reactive protein was associated with a higher use of antibiotics. Respiratory Syncytial virus (RSV) was the main aetiological agent, followed by Rhinovirus, Bocavirus, Adenovirus and Metapneumovirus CONCLUSIONS: The majority of hospital admissions due to bronchiolitis took place during the first months of life. Infants whose mothers smoked during pregnancy had a worse clinical outcome. Despite the availability of clinical practice guidelines in our area, the use of diagnostic tests and pharmacological treatment was high.