Robinow syndrome in a newborn presenting with hydrocephalus and craniosynostosis
Robinow syndrome is an extremely rare inherited disorder that affects development of the bones and other parts of the body.
Autosomal recessive (AR) Robinow syndrome: More severe and is characterized by shortening of the long bones in the arms and legs; short fingers and toes; wedge-shaped spinal bones that leads to abnormal curvature of the spine (kyphoscoliosis); fused or missing ribs; short stature; and distinctive facial features that are sometimes described as “fetal facies” because the face is similar to the face of a developing fetus. Other features may include underdeveloped genitalia; dental problems; kidney or heart defects; or delayed development.
Autosomal dominant (AD) Robinow syndrome have similar but milder features. Spine and rib anomalies are usually not present and short stature is less severe. Some individuals with autosomal dominant Robinowsyndrome also have increased bone mineral density (osteosclerosis).
AR type: mutations in the ROR2 gene
AD type: mutations in the WNT5A gene or DVL1 gene
ROR2 Exon3 (c233 c>t p. Thr78 Met), which is found in the AR type of Robinowsyndrome.
There are cases which develop secondary craniosynostosis after VP shunting. In these cases, the sutures tend to remain visible.
The sutures of our cases had fused during the follow up. So that there is a high possibility to think that this cases is not secondary craniosynostosis.
Robinowsyndrome is a rare entity with a characteristic appearance, such as hypertelorism, short stature, mesomelicshortening of the limbs, hypoplastic genitalia, and rib and vertebral anomalies. We had treated a case of Robinowsyndrome who developed hydrocephalus and craniosynostosis which is not usually associated.
The ventricle enlargement was detected during pregnancy in this baby girl. She did not develop hydrocephalus just after birth. Her facial appearance was fetus-like so the pediatricians had suspected Robinowsyndrome. During follow up, her head circumference enlarged rapidly 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 detected with images so that she underwent ventriculo-peritoneal shunting (VPS). Her head enlargement seized. 6 months after surgery, Her parents noticed the brachycephalic shape of her head. A CT and MRI scan were conducted and 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 pansynostosisrather than secondary craniosynostosis due to VPS. Posterior cranial vault distraction with foramen magnum decompression (FMD) was conducted. The distraction was performed by 1mm per day up to 30mm. After a consolidation period of 2 months, the distractors were removed. This distraction resulted in a 15.4% increase (+196cc) of the intracranial space with an improvement of the chronic tonsillar herniation.
To confirm the diagnosis, a genetic testing was conducted. The analysis showed ROR2 Exon3 (c233 c>t p. Thr78 Met), which is found in the recessive type of Robinowsyndrome.
We report this case as the first to our best knowledge of RobinowDisease presenting with hydrocephalus and craniosynostosis. Posterior cranial vault distraction with FMD is a useful way to treat this condition.