Donnai-Barrow Syndrome

Genetic disorder responsible for diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, eye anomalies, and sensorineural deafness.

Six cases have been reported since its first description by Donnai and Barrow in 1993. Some researchers believe that Donnai-Barrow Syndrome and facio-oculo-acoustico-renal (FOAR) syndrome belong to the same entity.

Autosomal recessive.

The precise mechanism resulting in the findings of this syndrome remains to be determined.

Pregnancy may be complicated by polyhydramnios, and prenatal diagnosis can be made by ultrasonography.

Patients are born with bilateral absence of the diaphragm (some die shortly after birth as a result of severe pulmonary hypoplasia). Congenital heart disease may coexist (double-outlet right ventricle, ventricular septal defect, patent foramen ovale, persistent ductus arteriosus). Omphalocele (exomphalos), intestinal malrotation, absent corpus callosum, severe myopia (15-20 diopters), iris coloboma, retinal detachment, sensorineural deafness, and variable degree of developmental delay are characteristic of this syndrome. Other distinct features include facial dysmorphism with enlargement of both fontanels, hypertelorism with down-slanting palpebral fissures, broad nose, angulated ears, and mild micrognathia.

Evaluate the degree of the newborn's illness. Depending on the amount of abdominal contents in the chest and the severity of pulmonary hypoplasia, the neonate may require immediate tracheal intubation and controlled ventilation or even extracorporeal membrane oxygenation (ECMO). In the presence of severe pulmonary hypoplasia with pulmonary hypertension, an attempt at inhalation of nitric oxide to reduce pulmonary vascular resistance may be worthwhile, before ECMO is considered. ECMO is the ultimate bridging management for refractory cases; however, the prognosis is unfavorable for patients with severely hypoplastic lungs and pulmonary vasculature. The size of the omphalocele is usually moderate. Obtain a chest radiograph and echocardiography to rule out possible congenital cardiac lesions. Laboratory investigations should include serum electrolytes and glucose, hemoglobin, blood type, cross-match, and arterial blood gas analysis. Later in life, consider administration of an anxiolytic premedication for elective surgery if mental retardation is present.

Any surgery should be preceded by optimization of the infant's volume and electrolyte status, intensive respiratory care, and prevention of further intrathoracic distension of bowel loops by permanent low suction through a gastric tube. Avoid high airway pressures (>25 mmHg) and accept permissive hypercapnia instead. If the patient is on ECMO, care should be taken to avoid kinking the cannulas when positioning the patient for surgery. Hypothermia increases morbidity significantly. Invasive monitoring, such as arterial (preferentially preductal) and central venous line, is required. The upper extremities are preferred for peripheral venous access because reduction of the diaphragmatic hernia and/or the omphalocele increases the intraabdominal pressure and may obstruct the inferior vena cava. Preductal and postductal pulse oximetry allow for early detection of right-to-left shunting. Nitrous oxide should be avoided as it distends gas-filled intestinal loops and worsens the pulmonary situation. Pulmonary mechanics change rapidly intraoperatively, and any acute deterioration in lung compliance, oxygenation, and/or hemodynamic parameters suggests a pneumothorax. When reducing an omphalocele, intragastric pressures higher than 20 mmHg usually are poorly tolerated. Postoperatively, an intensive care unit bed is required for continued respiratory and hemodynamic management.

No specific considerations for this condition.

Facio-Oculo-Acoustico-Renal (FOAR) Syndrome: Genetic disorder affecting the eyes (blindness), ears (deafness), face, kidneys, and the bones.