Lethal multiple pterygium syndrome in a newborn, a case report.

Lethal multiple pterygium syndrome is a very rare genetic disorder. The manifestations of this condition include growth deficiency of the fetus, craniofacial anomalies, joint contracture, and skin webbing (pterygia). This disorder is fatal before birth or shortly after birth. We reported a case of lethal multiple pterygium syndrome with multiple anomalies including pterygia involving the axilla, bilateral antecubital fossa, and groin. Arthrogryposis involving multiple lower and upper extremities joints. Cleft palate, microstomia and limitation of mouth opening, webbed neck, asymmetric small and narrow chest, ambiguous genitalia, depressed and wide nasal bridge, antemongoloid slant, low-set, malformed, and posteriorly rotated ears, pterygia, syndactyly and camptodactyly of hands and rocket bottom feet. LMPS is a congenital genetic disease with multiple anomalies that is fatal in the second and third trimesters of pregnancy or shortly after birth. With genetic testing and counseling, it can be prevented from recurring in subsequent pregnancies.

The outcome of esophageal perforation in neonates and its risk factors: a 10-year study.

PURPOSE: Esophageal perforation is a rare complication in infants that can be difficult to diagnose. The mortality rate due to esophageal perforation is high. This condition is more common in low birth weight premature infants. This study examines esophageal perforation in relation to various demographic and clinical variables. METHODS: This study has a cross-sectional design. All pre-term neonates with esophageal perforation at Valiasr Hospital in Tehran, Iran, were included in the study over the span of ten years, from 2011 to 2021. Factors, such as gestational age, sex, weight, type of delivery, and interventions performed that could contribute to the condition, including intubation and Orogastric (OG) tube insertion, were investigated in the participants. RESULTS: Among the 9924 infants studied over the 10-year period, 15 cases (0.15%) had esophageal perforation. All these infants underwent non-operative management with acceptable results. CONCLUSION:  Learning about the risk factors for iatrogenic esophageal perforation in neonates can help prevent this unwanted event in most cases. Also, the majority of these cases can be managed non-operatively provided that early diagnosis is made.