Gastroschisis: a systematic review of diagnosis, prognosis and treatment.

Objectives: The present systematic review aims to investigate the diagnosis, prognosis, delivery assistance, pregnancy results and postnatal management in gastroschisis.

Study Design: The following data sources were evaluated: The CINAHL, Embase and MEDLINE/PubMed databases were searched, observational and intervention studies published over the past 20 years. The quality of the studies was assessed using the Grading of Recommendations, Assessment, Development, and Evaluations (GRADE).

Copy Number Gain at Xq28 in a Child with Global Developmental Delay Associated with a Variant Form of Hoyeraal-Hreidarsson Syndrome.

We report the case of a child from Central Brazil with global developmental delay (GDD), syndromic features, and absence of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa, with a rearrangement at Xq28 harboring the gene. GTC-banding revealed a male karyotype (46,XY) with no visible numerical or structural alterations. Chromosomal microarray analysis (CMA) showed a 0.