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Genetic disorder responsible for diaphragmatic hernia,
exomphalos, absent corpus callosum, hypertelorism, eye anomalies, and
sensorineural deafness.
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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.
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The precise mechanism resulting in the findings of
this syndrome remains to be determined.
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Pregnancy may be complicated by polyhydramnios, and
prenatal diagnosis can be made by ultrasonography.
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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.
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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.
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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 ...