A Case Report of Donnai-Barrow Syndrome.

A Case Report of Donnai-Barrow Syndrome. Adv Neonatal Care. 2020 Jul 07;: Authors: Robinson MK, Coe K, Bradshaw WT Abstract BACKGROUND: A genetic disorder should be considered when an infant presents with multiple congenital anomalies. Because of the acute presentation of an infant with multiple life-threatening defects, a genetic diagnosis of a rare disorder took weeks to delineate. CLINICAL FINDINGS: This case describes a late preterm infant who presented at birth with congenital diaphragmatic hernia, tetralogy of Fallot, cleft lip, low-set ears, and hypertelorism. PRIMARY DIAGNOSIS: Donnai-Barrow syndrome was the final diagnosis confirmed by a defect observed on the LRP2 (2q31.1) gene using sequence analysis. This is a rare disorder that presents with a variety of phenotypic features in infants. INTERVENTIONS: Initial neonatal resuscitation in the delivery room included intubation, positive pressure ventilation, and oxygen supplementation. Extracorporeal membrane oxygenation therapy was initiated from day of life 3 to 15. Initial surgery included correction of the congenital diaphragmatic hernia, and further surgical procedures included tracheostomy, gastrostomy tube, circumcision, ventricular septal defect repair, and cleft lip repair. Physical, occupational, and speech therapies were also initiated. OUTCOMES: The infant was transported to a pediatric rehabilitation facility at 6 months of life for...
Source: Advances in Neonatal Care - Category: Nursing Authors: Tags: Adv Neonatal Care Source Type: research