Umblical hernia, hypertelorism, sensorineural deafness: Is it Donnai–Barrow syndrome?

Introduction: Donnai–Barrow syndrome is a rare autosomal recessive disorder first described in 1993 and characterized by diaphragmatic hernia, hypertelorism, agenesis of the corpus callosum and deafness. Case Report: A 23­year­old female with clinical features similar to Turner patients were sent to our department by cardiology department. The main features were umblical hernia, hypertelorism (interpupillary distance 45 mm), and sensorineural deafness. Other findings included mid­face hypoplasia, a broad forehead, exotropia, frontal bossing and wide anterior fontanel, down slanting palpebral fissures, short nose with a broad tip, cubitis valgus and posterior rotated ears, webbed neck and short stature (height ­ 144 cm, weight ­ 47.5 kg). Magnetic resonance imaging (MRI) scan of the brain confirmed arachnoid cyst, cervical spinal stenosis (thought to be secondary to hydrocephalus) and absent corpus collosum. Autosomal recessive inheritance was suspected because patient's parents were also first cousins. Cytogenetic analysis demonstrated normal karyotype (46, XX). Conclusion: We describe a female patient who shares identical characters to the patients described by Donnai and Barrow. Although our patient has got a large number of malformations, her karyotype was normal, which makes this case extremely interesting. Such patient's have moderate levels of mental life which is consonant with the disease, and the patients can adapt to social life.