Sydromic Craniosynostosis: Apert, Crouzon, & Pfeiffer Syndrome
The children with syndromic craniosynostosis usually have multiple cranial sutures fused. There are also several other differences, including bulging eyes, retruded midface, causing airway obstruction. In kids with Apert Syndrome, there is a classic fusion of their fingers and toes.
Diagnosis includes Dr. Chaiyasate performing a complete physical examination. Many of these syndromes can be diagnosed based on the physical exam only. All of these children will require CT scan of the craniofacial region and genetics consultation. Often, a sleep study is indicated to assess the severity of the airway obstruction.
Treatment of syndromic craniosynostosis varies from institution to institution. Dr. Chaiyasate initially focuses on expansion of the skull to accommodate the rapid growing brain. Dr. Chaiyasate performs posterior skull distraction, which is the most advanced and current treatment in the craniofacial field. See pictures for more information. The posterior cranial vault distraction should be performed in the first year of life. The next step would be expanding the anterior skull to not only increase the room in the front of the skull, but also to correct the bulging of the eyes. These frontal-orbital advancements are usually performed between age 12-18 months.
The retruded midface is usually reconstructed during age 3-5 years old using the technique of distraction osteogenesis. It is not uncommon that these children will require a secondary midface distraction during their teen years. In some situations, the frontal bone and the retruded midface need to be advanced at the same time. This operation is called monobloc advancement.
Eventually, all of the children will require orthodontic treatment and jaw surgery to achieve a normal bite. They will also require a definitive rhinoplasty during their late teens.
Craniosynostosis refers to the premature fusion of the skull of a child. There are six cranial sutures, including metopic, left coronal, right coronal, sagittal, left lambdoid and right lambdoid. When the cranial suture fuses prematurely, it causes a unique and abnormal head shape. The trigonocephaly refers to a triangular forehead which is classic for metopic craniosynostosis. The scaphocephaly, which is an elongated head, refers to the classic fusion of the sagittal suture. The children with single coronal fusion have a unique and usually severe deformity called anterior plagiocephaly. These children will have abnormal eye socket location and the root of the nose will be deviated to the fused side. The children with bicoronal synostosis have a short, narrow and tall forehead called brachycephaly. These bilateral coronal synostosis are commonly seen in syndromic craniosynostosis. The children with lambdoid craniosynostosis usually have flat heads on one side with a bulging of the mastoid bone on the affected side. The experience of a craniofacial surgeon is required to distinguish between positional plagiocephaly and a true craniosynostosis. The children with single suture craniosynostosis have a 17 % chance of increased pressure in the brain. If left untreated, they can develop cognitive delay and behavioral problems. However, surgical repair and reshaping of the cranial bones may not necessarily eliminate a pre existing cognitive function delay. Hence surgical reshaping and release are recommended.
Craniosynostosis can be diagnosed as simply as a plain skull X Ray and also by CT scan of the head. Usually, the physical diagnosis can be made just by an examination of an experienced craniofacial surgeon.
For the metopic craniosynostosis, if the patient presents at a very young age, less than three months old, Dr. Chaiyasate would recommend a minimally invasive endoscopic assisted metopic suture release combined with a 4-6 month long molding helmet. For children that present older than 4-6 months with a severe deformity Dr. Chaiyasate will recommend reshaping of the frontal bone and the eye socket using standard approach.
For the sagittal craniosynostosis, if the patient presents less then 4 months old, then Dr. Chaiyasate recommends a less invasive endoscopic suturectomy, combined with 4-6 months of molding helmet therapy. If the patient presents older than 6 months of age, Dr. Chaiyasate recommends total calvarial reconstruction to achieve maximum release of the constricted brain and appropriate head shape.
For the unique coronal and bilateral coronal synostosis, it is difficult to achieve a good result using an endoscopic approach. Dr. Chaiyasate will recommend the frontal bone and the eye socket reconstruction and reshaping between age 9-12 months. Dr. Chaiyasate believes that performing surgery at such a young age has a high revision rate.
For the lambdoid craniosynostosis, the approach will be similar to the metopic craniosynostosis which is dictated by the age of presentation.
Endoscopic Approach vs. Conventional Skull Surgery in Craniosynostosis
The endoscopic approach has regained popularity and can achieve results which are as good as the conventional surgery when combined with the helmet therapy.
The benefits of endoscopic approach in these children include decreased blood loss, shorter incision and scarring, shorter hospitalization and faster recovery. Under Dr. Chaiyasate’s care, most patients will be discharged to home the first day after surgery. Unfortunately, the results of the endoscopic surgery is dependent upon compliance with the molding helmet.
Conventional open skull approach requires making a skin incision from ear to ear, resulting in a longer, but acceptable scar. This may be the only way to help these children. Many of these children require blood transfusion.
Post Operative Care
All of these children will be admitted to the Pediatric ICU at Beaumont Hospital for the first 48 hours. However, the children with endoscopic approach will usually be discharged home within the first 24 hours after surgery. Those with the conventional approach will be discharged home after 4-5 days. Due to advances in care, the morbidity and mortality rates are extremely low.
It is important for the children with craniosynostosis to follow up with the Beaumont Craniofacial Clinic (Ian Jackson Craniofacial and Cleft Palate Clinic) every year for the first five years for cognitive evaluations.
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