Cranioplasty in Frontometaphyseal Dysplasia

전두부 골간단 이형성증의 광범위한 수술적 치료

  • Jung, Eui Seok (Department of Plastic Surgery, Samsung Medical Center, Sungkyunkwan University College of Medicine) ;
  • Mun, Goo Hyun (Department of Plastic Surgery, Samsung Medical Center, Sungkyunkwan University College of Medicine) ;
  • Lim, So Young (Department of Plastic Surgery, Samsung Medical Center, Sungkyunkwan University College of Medicine) ;
  • Hyon, Won Sok (Department of Plastic Surgery, Samsung Medical Center, Sungkyunkwan University College of Medicine) ;
  • Bang, Sa Ik (Department of Plastic Surgery, Samsung Medical Center, Sungkyunkwan University College of Medicine) ;
  • Oh, Kap Sung (Department of Plastic Surgery, Samsung Medical Center, Sungkyunkwan University College of Medicine) ;
  • Pyun, Jae Kyung (Department of Plastic Surgery, Mokdong Hospital, Ewha Womans University College of Medicine)
  • 정의석 (성균관대학교 의과대학 성형외과학교실) ;
  • 문구현 (성균관대학교 의과대학 성형외과학교실) ;
  • 임소영 (성균관대학교 의과대학 성형외과학교실) ;
  • 현원석 (성균관대학교 의과대학 성형외과학교실) ;
  • 방사익 (성균관대학교 의과대학 성형외과학교실) ;
  • 오갑성 (성균관대학교 의과대학 성형외과학교실) ;
  • 변재경 (이화여자대학교 의과대학 성형외과학교실)
  • Received : 2005.12.19
  • Published : 20060000

Abstract

Frontometaphyseal dysplasia is a rare genetic syndrome first described by Gorlin and Cohen in 1969. This disease affects the skeletal system and connective tissue, and could be characterized by hyperostosis of the skull, prominence of supraorbital ridges, additional skeletal and extraskeletal abnormalities. It is believed that the condition is an X-linked dominant trait with severe manifextations in males and extreme variability in females.We described a case of 15-year-old boy manifested a pronounced supraorbital ridge associated with exorbitism. He also had bilateral progressive hearing deficit, thoracic spine scoliosis, chest wall deformity, bilateral maxillary sinusitis and both 5th finger arachnodactyly.The patient underwent a fronto-temporo-orbital cranioplasty through a coronal incision. The frontal bone including supraorbital region, orbital lateral rim and temporal bone were extensively contoured with burr. And then, burring of the medial aspect of lateral orbital wall was made to increase both orbital volume for correction of exorbitism. Postoperative results show well corrected prominent supraorbital ridge, hyperostosis of frontotemporal bone and exorbitism. The patient was satisfied with the improved appearance. No recurrence occurred during the 6 months of follow-up period. We report this case as it shows esthetically good result without any complication.

Keywords

References

  1. Gorlin RJ, Cohen MM Jr: Frontometaphyseal dysplasia. A new syndrome. Am J Dis Child 118: 487, 1969 https://doi.org/10.1001/archpedi.1969.02100040489014
  2. Park JM, Contreras EA, Garcia RR: Mitral valve prolapse in a patient with frontometaphyseal dysplasia. Clin Pediatr(Phila) 25: 469, 1986 https://doi.org/10.1177/000992288602500914
  3. Takahashi K, Kuwahara T, Tanigawara T, Hattori T, Masuno M, Kondo N: Frontometaphyseal dysplasia: patient with ruptured aneurysm of the aortic sinus of Valsalva and cerebral aneurysms. Am J Med Genet 108: 249, 2002 https://doi.org/10.1002/ajmg.10265
  4. Verloes A, Lesenfants S, Barr M, Grange DK, Journel H, Lombet J, Mortier G, Roeder E: Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. Am J Med Genet 90: 407, 2000 https://doi.org/10.1002/(SICI)1096-8628(20000228)90:5<407::AID-AJMG11>3.0.CO;2-D
  5. Stefanova M, Meinecke P, Gal A, Bolz H: A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype. Am J Med Genet A 132: 386, 2005
  6. Morava E, Illes T, Weisenbach J, Karteszi J, Kosztolanyi G: Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families. Am J Med Genet A 116: 272, 2003
  7. Kung DS, Sloan GM: Cranioplasty in frontometaphyseal dysplasia. Plast Reconstr Surg 102: 1144, 1998 https://doi.org/10.1097/00006534-199809040-00034
  8. Lee SR, Jeong JW: A Case Report of Frontometaphyseal Dysplasia. J Korean Soc Plast Reconstr Surg 26: 514, 1999