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

Abstract

Background: Crouzon syndrome is an autosomal dominant genetic disorder characterized by craniosynostosis, midface retrusion, and exophthalmos. Over the past century, the treatment of craniofacial disorders like Crouzon syndrome has evolved significantly.

Methods: An institutional review board-approved retrospective study was conducted to ascertain the treatment of three individuals with Crouzon syndrome from one family, complemented with a series of literature searches to examine the evolution of craniofacial surgical history.

Results: Dr. David Williams Cheever developed the Le Fort I level to correct malocclusion, maxillomandibular malformations, and midface hypoplasia. Later, Dr. Paul Tessier introduced the Le Fort II and III osteotomies to treat syndromic midface hypoplasia. In 1978, Dr. Fernando Ortiz-Monasterio and Dr. Antonio Fuente del Campo published the first series of monobloc osteotomies, allowing for simultaneous correction of supraorbital and midface malformations, although complicated by blood loss and high infection rates. In 1992, McCarthy et al introduced the concept of gradual distraction to the craniofacial skeleton. In 1995, Polley et al performed the first monobloc advancement using external distraction. Subsequently, in 1997, Polley and Figueroa introduced a rigid external distraction device with multiple vector control to manage severe cleft maxillary hypoplasia. The technique was further refined and applied to treat syndromic midface hypoplasia, reducing complication rates. Currently, either external or internal distraction approaches are used to safely treat this challenging group of patients.

Conclusion: The treatment of syndromic midface deficiency has significantly evolved over the past 50 years, as evidenced by this report of three generations of Crouzon syndrome.

Fig. 1.

The pedigree for the family with three generations of Crouzon syndrome. The arrow indicates the proband.

Fig. 2.

Frontal (A) and right lateral (B) views of patient 1 (proband) preoperatively. Frontal (C) and right lateral (D) views of patient 1 (proband) postoperatively after traditional monobloc advancement and rigid skeletal fixation. Frontal (E) and right lateral (F) views of patient 1 (proband) postoperatively at 20 years and 10 months of age after Le Fort III, monobloc, and bilateral canthopexies. Frontal (G) and right lateral (H) views of patient 1 (proband) postoperatively at 31 years and 2 months of age after Le Fort I.

Fig. 3.

Frontal (A) and right lateral (B) views of patient 2 (proband’s mother) preoperatively at 44 years and 7 months of age (post initial traditional monobloc advancement). Frontal (C) and right lateral (D) views of patient 2 (proband’s mother) postoperatively at 52 years and 5 months of age after Le Fort III, monobloc advancement with an RED device, and bilateral canthopexies.

Fig. 4.

Frontal (A) and right lateral (B) views of patient 3 (proband’s son) preoperatively at 1 year and 10 months of age. Frontal (C) and right lateral (D) views of patient 3 (proband’s son) postoperatively at 2 years and 7 months of age after monobloc and Le Fort III advancement with RED device. Frontal (E) and right lateral (F) views of patient 3 (proband’s son) postoperatively at 14 years of age after bilateral coronoidectomies, Le Fort III with advancement with RED, and LeFort I.

Fig. 5.

All three generations of the family with Crouzon syndrome, including the proband (left), proband’s son (middle), and proband’s mother (right).

Fig. 6.

Algorithm for the treatment of patients with Crouzon syndrome.