INTRODUCTION: Craniometaphyseal dysplasia is a rare hereditary bone disease presenting metaphyseal widening of the tubular bones, sclerosis of craniofacial bones and bony overgrowth of the facial and skull bones. Craniometaphyseal dysplasia occurs in an autosomal dominant (AD) and an autosomal recessive (AR) form. CASE REPORT: We present a 32-year-old patient arrived at our unit in May 2009. His main discomfort was a major limitation of the mouth opening, in the context of a craniofacial deformity. Relying on patient's medical history and the performed diagnostic tests, the diagnosis of craniometaphyseal dysplasia was made. CONCLUSION: After careful evaluation of the clinical case, in accordance with the requirements of the patient, we opted for a surgical treatment aimed at correction of functional limitation of temporomandibular joint and aesthetic improvement of the facial bones. The stability of the clinical results led us to suggest and to undertake the surgical path, also due to the lack of safe and consolidated non-surgical treatments for the specific case.
INTRODUCTION: Craniometaphyseal dysplasia is a rare hereditary bone disease presenting metaphyseal widening of the tubular bones, sclerosis of craniofacial bones and bony overgrowth of the facial and skull bones. Craniometaphyseal dysplasia occurs in an autosomal dominant (AD) and an autosomal recessive (AR) form. CASE REPORT: We present a 32-year-old patient arrived at our unit in May 2009. His main discomfort was a major limitation of the mouth opening, in the context of a craniofacial deformity. Relying on patient's medical history and the performed diagnostic tests, the diagnosis of craniometaphyseal dysplasia was made. CONCLUSION: After careful evaluation of the clinical case, in accordance with the requirements of the patient, we opted for a surgical treatment aimed at correction of functional limitation of temporomandibular joint and aesthetic improvement of the facial bones. The stability of the clinical results led us to suggest and to undertake the surgical path, also due to the lack of safe and consolidated non-surgical treatments for the specific case.
Authors: William M Sheppard; Robert J Shprintzen; Sherard A Tatum; Charles I Woods Journal: Int J Pediatr Otorhinolaryngol Date: 2003-06 Impact factor: 1.675
Authors: E Reichenberger; V Tiziani; S Watanabe; L Park; Y Ueki; C Santanna; S T Baur; R Shiang; D K Grange; P Beighton; J Gardner; H Hamersma; S Sellars; R Ramesar; A C Lidral; A Sommer; C M Raposo do Amaral; R J Gorlin; J B Mulliken; B R Olsen Journal: Am J Hum Genet Date: 2001-04-16 Impact factor: 11.025
Authors: P Nürnberg; H Thiele; D Chandler; W Höhne; M L Cunningham; H Ritter; G Leschik; K Uhlmann; C Mischung; K Harrop; J Goldblatt; Z U Borochowitz; D Kotzot; F Westermann; S Mundlos; H S Braun; N Laing; S Tinschert Journal: Nat Genet Date: 2001-05 Impact factor: 38.330