Crouzon Syndrome Spanning Three Generations: Advances in the Treatment of Syndromic Midface Deficiency

“

TL;DR

This retrospective case study of three generations of a family with Crouzon syndrome demonstrates the evolution of surgical treatment for syndromic midface deficiency over 50 years. Traditional monobloc and Le Fort III osteotomies, while effective, were associated with high complication rates, but the introduction of gradual distraction techniques, particularly the rigid external distraction (RED) device, has significantly reduced complications and improved outcomes. The clinical significance lies in highlighting how surgical innovation has enabled safer, more individualized treatment for this challenging condition.

Full summary

4,261 CHARS

**Background:** Crouzon syndrome is an autosomal dominant genetic disorder caused by mutations in FGFR2 and FGFR3, characterized by craniosynostosis, midface retrusion, and exophthalmos. It affects approximately 16.5 per million live births, with a prevalence of 1 in 60,000 in the United States. Untreated, premature suture fusion can lead to increased intracranial pressure, papilledema, optic nerve compression, blindness, and intellectual disability. Patients also commonly have breathing difficulties due to midface deficiency and airway narrowing. Surgical management has evolved significantly over the past century, from early osteotomies to modern distraction osteogenesis techniques.

**Methods:** This is an institutional review board–approved retrospective study of three individuals with Crouzon syndrome from one family, treated by three generations of craniofacial surgeons. The study also includes a literature review examining the evolution of craniofacial surgical history. The three patients are: the proband (a 33-year-old woman), her mother (a 66-year-old woman), and the proband's son (a 13-year-old boy). Each patient's surgical history and outcomes are described in detail.

**Key Results:** - **Patient 1 (proband):** Underwent traditional monobloc advancement with rigid fixation at age 4 by Dr. John Polley. At age 16, she had fronto-orbital advancement and Le Fort III advancement using a RED device. At age 30, she underwent Le Fort I osteotomy with maxillary advancement and osseous genioplasty by Dr. Christina Tragos, followed by staged nasal reconstruction and secondary septo-rhinoplasty. At last follow-up (2 years postoperatively), she reported satisfaction with appearance and improved oral function and nasal breathing. - **Patient 2 (proband's mother):** Underwent traditional monobloc advancement with bone grafts in adolescence by Dr. Fernando Ortiz-Monasterio. At age 45, she had monobloc advancement with RED device, reconstruction of the left lateral orbit with autologous cranial bone graft, and bilateral canthopexies by Dr. Polley. Later that year, she had bilateral frontotemporal cranioplasties. These procedures resulted in significant improvement in breathing, eye protection, vision, and mastication. - **Patient 3 (proband's son):** At age 2 years 2 months, underwent monobloc advancement with RED device by Dr. Polley. At age 7, had traditional Le Fort III osteotomy at another institution. At age 10 years 6 months, underwent bilateral coronoidectomies by Dr. Tragos for limited mouth opening (maximum interincisal opening [MIO] 4 mm, improved to 12 mm). At age 12 years 3 months, had Le Fort III osteotomies and advancement with RED device. At age 13, underwent maxillary Le Fort I advancement with bone graft and bilateral sagittal split osteotomies of the mandible. At most recent follow-up (age 14), MIO was 30 mm, function and occlusion improved, and the patient was eating well and gaining weight.

The literature review highlights key milestones: Dr. Paul Tessier introduced Le Fort II and III osteotomies; in 1978, Ortiz-Monasterio et al published the first series of monobloc osteotomies (associated with >30% infection rate); in 1992, McCarthy et al introduced gradual distraction; in 1995, Polley et al performed the first monobloc advancement using external distraction; in 1998, Polley and Figueroa introduced the RED device for severe cleft maxillary hypoplasia, later refined for syndromic midface hypoplasia with reduced complication rates.

**Clinical Implications:** The evolution from traditional monobloc and Le Fort III osteotomies (with high blood loss and infection rates) to gradual distraction techniques (especially the RED device) has revolutionized treatment of syndromic midface deficiency. The RED device allows controlled, individualized adjustments, avoids creation of a nasofrontal space (reducing infection risk), and does not require reoperation for removal. Early surgical intervention is crucial to reduce long-term respiratory, ophthalmological, and neurological adverse outcomes. The cases demonstrate that a tailored approach, using the best available techniques of each era, can achieve improved craniofacial morphology, function, and aesthetics across generations.