Family of Crouzon Syndrome Represents the Evolution of the Frontofacial Monobloc Advancement Technique

Abstract

Crouzon syndrome (CS) is an autosomal dominant disorder characterized by premature fusion of cranial sutures, midface and supraorbital ridge retrusion, exorbitism, and in some clinical scenarios strabismus, parrot-beaked nose, short upper lip and hypertelorbitism. Treatment of CS is overlapped with the beginning of craniofacial surgery and is grounded on morphologic and functional objectives. The authors reported on the outcomes and complications of family members (mother and 2 siblings) with CS, who were operated on by different techniques of frontofacial advancement and have attained skeletal maturity. Operations were performed in different moments throughout the last 3 decades of craniofacial surgery history. A 10-year-old Crouzon progenitor underwent a monobloc osteotomy with acute advancement, using rigid fixation and bone grafting in the osteotomy sites. An 8-year-old Crouzon daughter underwent gradual lengthening of a monobloc segment, using an external, institutionally made distracter device. In addition, a 10-year-old Crouzon son underwent gradual lengthening of a monobloc segment associated to facial bipartition, using an internal distracter device. After 30 years, the mother presented a mild relapse on the orbit level, but her children had satisfactory stable outcomes. The family members with CS have undergone different modifications of the monobloc approach based on different chronological momentum, from acute monobloc advancement, to monobloc distraction, to monobloc facial bipartition distraction.

An Unoperated Crouzon Family Treated with Monobloc Distraction: Challenges and Lessons

“… 3 There are very few reports of Crouzon patients treated as adults with monobloc facial advancement, 8 and one additional report includes a Crouzon family treated with different modifications of the monobloc facial advancement over generations of treatment. 2 To our knowledge, this is the first report of a family affected by CS treated sequentially with monobloc facial advancement using combined internal and external distraction osteogenesis.…”

“…Crouzon syndrome (CS) affects 1.6 in 100,000 births per year and represents up to 4.8% of those born with craniosynostosis. 1 , 2 Most are diagnosed, treated, and followed through early childhood. CS is associated with synostosis of coronal sutures and facial features including exophthalmos, severe midface hypoplasia, and hypertelorism.…”

Cleft Lip and Palate Midfacial Hypoplasia: Criteria to Choose the Treatment

“…The use of the RED I device has become an excellent treatment strategy, as it allows precise and controlled distraction of the maxillary osteogenesis. [25][26][27] RED II was later introduced to improve the control vector by means of an additional anchor to the zygomatic bone. All of these features have made the use of RED I and II an excellent alternative treatment for patients with severe maxillary hypoplasia.…”

Posterior Vault Distraction Outcomes in Patients With Severe Crouzon Syndrome Resulting from Ser347Cys and Ser354Cys Mutations

“…Crouzon syndrome is a rare and autosomal dominant syndrome considered to be the mildest phenotype among patients with syndromic craniosynostosis, the most common of which are Apert, Pfeiffer, and Saethre-Shotzen syndromes. 1,2 Although Crouzon syndrome can clinically present with a wide spectrum of craniofacial and neurological features, it is principally characterized by elevated intracranial pressure, mild to severe obstructive sleep apnea as a consequence of midface retrusion, and multilevel airway obstruction and ocular protrusion, also known as exorbitism. Crouzon syndrome usually results from mutation of the gene encoding fibroblast growth factor receptor 2 (FGFR2) , but a report documenting Crouzon syndrome with acanthosis nigricans found a mutation in the fibroblast growth factor receptor 3 gene, suggesting the syndrome may be more genetically diverse than has previously been appreciated.…”