Intrauterine fetal death with vanishing gastroschisis and post mortem examination findings

Case reportWe present a severe case of vanishing gastroschisis resulting in intrauterine death with post mortem examination findings. Gastroschisis is defined as a full thickness paraumbilical abdominal wall defect associated with evisceration of fetal intestine. It is almost always right sided. Vanishing gastroschisis is an extremely rare form of gastroschisis that results in short bowel syndrome due to exteriorized bowel disconnected from the lumen of the rest of the bowel proximally as well as distally. This case is only the second published case of vanishing gastroschisis resulting in intrauterine fetal death including post mortem examination findings. It highlights the importance of being aware of this rare form of gastroschisis and provides insights regarding pathogenesis, ultrasound surveillance and antenatal counseling.Alexandra Frances Jolley, Elizabeth Beare, Jeremy Granger, Catherine Lucy Cord-Udy, Peter Muller, and Lynette Moor

Genome-wide High-Density SNP-Based Linkage Analysis of Infantile Hypertrophic Pyloric Stenosis Identifies Loci on Chromosomes 11q14-q22 and Xq23

Infantile hypertrophic pyloric stenosis (IHPS) has an incidence of 1–8 per 1000 live births and is inherited as a complex sex-modified multifactorial trait with a striking male preponderance. Syndromic and monogenic forms exist, and two loci have been identified. Infants present with vomiting due to gastric-outlet obstruction caused by hypertrophy of the smooth muscle of the pylorus. A genome-wide SNP-based high-density linkage scan was carried out on 81 IHPS pedigrees. Nonparametric and parametric linkage analysis identified loci on chromosomes 11q14-q22 (Zmax = 3.9, p < 0.0001; HLODmax = 3.4, α = 0.34) and Xq23 (Zmax = 4.3, p < 0.00001; HLODmax = 4.8, α = 0.56). The two linked chromosomal regions each harbor functional candidate genes that are members of the canonical transient receptor potential (TRPC) family of ion channels and have a potential role in smooth-muscle control and hypertrophy