Reconstructive Surgery / CF Syndromes

CF Syndromes

Craniosynostosis or premature cranial suture fusion may be nonsyndromic and occur as an 'isolated' happening.

Cranioysnostosis may also occur along with other anomalies in well-defined patterns that make up clinically recognizable syndromes. Syndromic craniosynostosis is often caused by genetic abnormalities. (It may be passed on from one generation to the next or occur by a new mutation). Recently, some syndromic craniosynostosis have been found to map to FGFR (fibroblast growth factor receptor) genes.

There are almost 100 reported craniosynsotosis syndromes. The most common ones include: Apert, Crouzon, Pfeiffer and Saethre-Chotzen Syndromes. Most patients with craniosynsotosis syndromes have normal intellegence but may be treated by others as developmentally slow or retarded until correction of their facial anomalies are performed.

The UCLA Cranifacial Clinic Treatment Protocol for these disorders is designed to maximize the benefits of corrective surgery and minimize the numbers of procedures. Timing of the procedures (optimal age) may vary depending on the diagnosis and individual patient’s functional needs (ie. elevated intracranial pressure, airway obstruction, eye exposure problems, etc.)

1. 6 months: (Craniosynostosis): Release of fused cranial sutures and Frontal-Orbital Advancement (forward movement of forehead and brow).
2. 6-10 years: (Mid-face hypoplasia): Le Fort III or Monobloc (forehead and midface) advancement by distraction osteogenesis (gradual lengthening).
3. 6-10 years: (Hypertelorism): Facial Bipartition or orbital box-osteotomy correction.
4. 15-20 years(age of facial skeletal maturity): (Malocclusion) Othodontic preparation followed by orthognathic (jaw) surgery.
5. 15-20 years (after orthognathic procedure) : Septorhinoplasty may be beneficial. Other procedures may be required during childhood. For instance, patients with cleft palate defects undergo initial palatal closure at 1 year of age.

Apert Syndrome may occur in 1 in 160,000 births. Craniosynostosis typically involves the bilateral coronal sutures resulting in a turribrachycephalic shape with a broad, flat forehead and occipital (back of head) flattening. The lambdoidal suture may also be involved. Mid-face hypoplasia results in proptosis (eyes bulging), possibly hypertelorism (eyes widened) and class III malocclusion (‘underbite’). Hand polysyndactyly or complex fusion of the fingers may result in a mid-digit hand mass with a free thumb. Surgical treatment for the akull and face follow the protocol above. Reconstructive hand surgery may begin at age 1 year and require multiple stages.

Crouzon Syndrome may occur in 1 in 25,000 births. Craniosynostosis usually involves the coronal sutures resulting in a brachycephalic shape but schaphocephaly (sagittal suture), trigonocephaly (metopic suture) or clover-leaf deformity may also occur. In addition, mid-face hypoplasia may develop with shallow orbits.

Pfeifer Syndrome has features of craniosynostosis, broad thumbs and toes and partially syndactyly (finger fusion) of the second and third digits.

Saethre-Chotzen Syndrome patients are known to have low-set hairline and eyelid ptosis (drooping).

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