Robinow syndrome in a newborn presenting with hydrocephalus and craniosynostosis

Robinow syndrome is a rare entity with a characteristic appearance, such as hypertelorism, short stature, mesomelic shortening of the limbs, hypoplastic genitalia, and rib as well as vertebral anomalies. We had treated a patient with Robinow syndrome who developed hydrocephalus and craniosynostosis which is not usually associated.

The ventricle enlargement was detected during pregnancy in a female infant. She did not develop hydrocephalus just after birth. Her facial appearance was fetus-like, so the pediatricians had suspected Robinow syndrome. During follow-up examinations, a rapidly enlarging head circumference was detected when she was 3 months old. Her conscious level was not disturbed, but she had a tight fontanel and sunset phenomenon was recognized. Hydrocephalus was diagnosed by radiographic imaging so that she underwent ventriculo-peritoneal shunting (VPS). Her irregular head enlargement seized. Six months after surgery, her parents noticed the brachycephalic shape of her head. A computed tomography (CT) and magnetic resonance (MR) scan were conducted and showed that her bilateral coronal, bilateral lambdoid, and the sagittal suture were fused in addition with a tonsillar herniation. Since the sutures were not remaining, we diagnosed that this was a primary pan synostosis rather than secondary craniosynostosis due to VPS. Posterior cranial vault distraction with foramen magnum decompression (FMD) was conducted. The distractor was extended by 1 mm per day up to 30 mm. After a consolidation period of 2 months, the distractors were removed. Through this intervention, a 15.4% increase (+196cc) of the intracranial space with an improvement of the chronic tonsillar herniation was achieved.

To confirm the diagnosis of Robinow syndrome, a genetic test was conducted. The analysis showed ROR2 Exon3 (c233 c>t p. Thr 78 Met), which is found in the recessive type of Robinow syndrome. We report this patient as, to our best knowledge, the first case documented case of Robinow disease presenting with hydrocephalus and craniosynostosis. Posterior cranial vault distraction with FMD is a useful way to treat this condition.