A novel termination site in a case of Stüve-Wiedemann syndrome: case report and review of literature.

Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive disorder that is characterized by bowing of long bones, dysautonomia, temperature dysregulation, swallowing and feeding difficulties, and frequent respiratory infections. Respiratory distress and hyperthermic events are the leading causes of early neonatal death, and most patients are not expected to survive past infancy. Here, we report on the survival of a 5-year-old male with SWS, discussing his case presentation, providing a brief clinical course, and discussing the outcome. This case adds to the literature surrounding rare instances of childhood survivors of SWS and raises awareness for this syndrome to facilitate an earlier recognition, intervention, and genetic counseling for the families, thereby improving understanding of this disease and the health outcomes for the children affected by this condition.

Unilateral Lung Agenesis: A Case Series and Review of Literature.

Unilateral lung agenesis is a rare congenital abnormality that typically presents with respiratory distress after birth. Prognostic factors include the side of the lung affected along with the presence or absence of other congenital abnormalities. Prenatal imaging can make the diagnosis that can assist the healthcare team in preparing to care for the neonate, as well as set expectations for the family. In this case series, we describe three cases of unilateral lung agenesis, two infants with right lung agenesis, and one with the left. We describe their presentation, provide a brief clinical course, and discuss outcomes.

Gastroschisis Complicated by Septo-Optic Dysplasia: Two Distinct Anomalies with a Common Origin.

Introduction Gastroschisis is considered to be an isolated abdominal wall defect that is infrequently associated with other anomalies. Case This case describes an infant with gastroschisis who developed refractory shock after an uncomplicated surgery for bowel atresia. He was found to have adrenal insufficiency secondary to septo-optic dysplasia with panhypopituitarism. Conclusion Gastroschisis and septo-optic dysplasia arise from vascular disruptions, therefore presence in the same infant can be more than just a coincidence. While this is not a common occurrence, our case illustrates the need for a high index of suspicion with an unusual clinical course.

A toll-like receptor 9 (rs352140) variant is associated with placental inflammation in newborn infants.

OBJECTIVE: Chorioamnionitis contributes to premature birth and associated postnatal morbidity. The genetic basis of altered immune responses underlying placental inflammation (PI) remains understudied. The aim of this study was to evaluate the relationship among TLR signaling pathway polymorphisms and different patterns of PI. METHODS: Prospective cohort study in infants involving cord blood collection and placental examination for PI. One hundred and fifty-nine infants enrolled in study out of which 28 were term (eight with PI) and 131 preterm (47 with PI). DNA from blood was genotyped for SNPs in TLR2, 4, 5, 9, NFKBI, NFKBIA, TIRAP, and IRAK1 genes using multiplexed single base extension assay. RESULTS: While there were no differences in BW, GA, gender, race, and SPL among infants with or without PI, there was a higher incidence of PPROM, maternal smoking, drug use, and clinical chorioamnionitis among infants with PI. Out of nine TLR variants, only CT and/or TT genotypes of the TLR9 variant (rs352140) were significantly associated (p = 0.004) with any PI and maternal pattern of inflammation (p = 0.012) both by univariate analysis and logistic regression. CONCLUSIONS: The presence of a variant T allele in a common SNP (rs352140) in the TLR9 gene whose product recognizes bacterial DNA is associated with increased PI.