Sidra Medicine Performs Groundbreaking Surgeries on Children with Apert Syndrome


QF entity performs life-saving surgery on baby girl

Doha, Qatar – Apert syndrome is a rare craniofacial condition, occurring in approximately 1/65,000 live births worldwide. It is known to be associated with a distinct genetic mutation. There are no currently understood precipitating factors that lead to this mutation, and it most commonly occurs sporadically (meaning it typically does not appear to be passed on in a hereditary fashion from a parent). 

Apert syndrome includes characteristic malformations of the patient’s skull, face, hands, and feet, as well as variable deformities in other anatomic areas. The distinguishing skull irregularity results in a head with dimensions that are reduced from front-to-back, excessive from side-to-side and top-to-bottom, and with eye sockets and an upper jaw bone that appears “pushed back”. This pattern of deformity is caused by premature fusion/closure of the skull bones prior to birth (referred to as “craniosynostosis”). 

Sidra Medicine has introduced many cutting-edge surgical techniques to Qatar, taking a multi-disciplinary approach to care including the treatment of children affected by conditions such as Apert syndrome.  A joint collaboration between the Plastic and Craniofacial Surgery and Neurosurgery Divisions, the team have conducted operations in which large portions of the skull bon have been cut, re-configured and sometimes “stretched” into new shapes and positions.  Many of these complex transformations require several surgical stages undertaken over a number of years in order to account for changes related to ongoing growth of the child.

Children with Apert syndrome and who have skull deformities, require the expertise of Neurosurgeons during surgery, who play a major role in removing parts of the skull safely while protecting the child’s brain and minimizing blood loss. This then allows the craniofacial surgeons to remodel the child’s head safely. Both specialties work as a team in the operating room.

Dr. Mitch Stotland

Dr. Mitch Stotland, the Division Chief of Plastic and Craniofacial Surgery at Sidra Medicine said: “At Sidra Medicine we are one of the few pediatric hospitals in the Middle East that is able to offer truly ground-breaking surgical interventions for rare and complex syndromes. While the majority of the Plastic Surgery performed at Sidra Medicine for cleft lip/palate, microtia, facial palsy, craniofacial microsomia, hand deformities, facial trauma, etc. is undertaken independently, all cranial reconstructions are appropriately performed in a specialized center with expert Pediatric Neurosurgery collaboration.  We work hand-in-hand in this particular area with neurosurgeons Dr. Ian Pople and Dr. Khalid Al-Kharazi.”

Dr. Khalid Al Kharazi,

Dr. Khalid Al Kharazi, Senior Attending Physician, Pediatric Neurosurgeon at Sidra Medicine said: “The Neurosurgery aspect when it comes to treating children with Apert Syndrome is to allow space for their brains to grow. Our role is to prevent problems developing problems like pressure inside the head. Also, the risk of leaving a skull that is prematurely fused, can result in brain damage. This can also restrict developmental progress and may lead to blindness. Our multidisciplinary approach to care means that Sidra Medicine is well equipped to pull in the expertise of different surgeons and healthcare specialists throughout a patient’s journey of care with us.”

Baby Eva’s Journey of Care at Sidra Medicine

Sidra Medicine - Eva (Apert Syndrome)

Baby Eva was born with all the typical findings related to Apert syndrome - including the characteristic cranial and facial deformities, as well as webbed fingers and toes.  

Commenting on Eva’s case, Dr. Stotland said: “As part of her Apert syndrome, Eva’s skull was restricted in growing forwards and backwards, resulting in a so-called “tower skull” deformity and eyes that appear to bulge forward due to the eye sockets being very shallow. In addition, we know that babies like Eva have an increased risk of elevated pressure on the brain, as well as difficulty closing their eyes properly both while they sleep and sometimes even when they are awake.”

After consultation at Sidra Medicine, the neurosurgery and craniofacial team’s recommendation was to surgically provide Eva’s brain more space to grow, and to advance the eye sockets to allow better protection for her eyes. 

Sidra Medicine - Eva (Apert Syndrome)

“We have brought the current avant-garde approach to Apert syndrome to Qatar, and that involves expanding the back half of the skull around six months of age, and advancing the forehead and eye sockets around one year of age,” continued Dr. Stotland.

Eva’s first surgery was performed in November 2020, by Dr. Mitchell Stotland, Dr. Khalid Al Kharazi and visiting locum neurosurgeon from Great Ormond Street Hospital, Dr. Noor Owase Jeelani. Her surgery involved the use of an implantable expansion device. Once installed, it will gradually push the back of her skull out over a period of weeks. 

Dr. Khalid Al Kharazi continued: “In Baby Eva’s case, we had to carefully drill holes in the back part of her skull and then mobilized the skull to allow it to be expand. This is a technically challenging surgery as we had to ensure that she would not face any long term pressure problems in her brain. We also needed to be on hand to monitor and protect the brain during the procedure and oversee 
the implantable expansion device’s insertion in Eva’s skull.  The performance of such delicate cranial operations requires experience, skills and cutting edge surgical equipment which I am proud to say are all available at Sidra Medicine, thanks to our multidisciplinary approach to care.”

Eva recovered very quickly from her surgery and was able to return to her normal behavior and routine in a matter of days.  Dr. Stotland said: “Because it is fully implantable and requires no daily “activation” on the part of the parents or medical team (like standard expansion devices), the new expansion apparatus offers real benefit to the patient, family, and caregivers.

Eva will return to Sidra Medicine in a few months for the next stage of her treatment and reconstruction which will involve the removal of the expansion device springs and a surgical advancement of the bones of her forehead and upper eye sockets. This will be followed by another surgery to separate her webbed fingers. 

“As for all children with complex craniofacial syndromes, Eva will continue to be followed throughout her entire childhood years by the entire Multidisciplinary Craniofacial team at Sidra Medicine in order ensure proper monitoring of her developmental progress and to be prepared to address any and all craniofacial needs that might accompany her ongoing growth and skeletal maturity,” concluded Dr. Stotland.

Eva’s parents said: We are really impressed with the care our daughter Eva received at Sidra Medicine. We felt reassured that our daughter was in the safest of hands and that the team were in conversation with us every step of the way as they took us through her treatment program. We felt like we were partners in her care.  We are also extremely grateful that such complex surgery is available for children in Qatar, led by a team of amazing team of healthcare professionals. While Eva’s journey of care will be long, we remain confident that she is getting the best in healthcare support.”