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Craniodiaphyseal Dysplasia

Hyperostosis Frontalis Interna


  • A nine-year-old boy with craniodiaphyseal dysplasia (CDD) presented for mandibular reduction. Patients with CDD present problems to the anaesthetist, specifically difficulties with airway management and tracheal intubation.[ncbi.nlm.nih.gov]
  • Radiologically, marked sclerosis and hyperostosis of the skull bones is present resulting in macrocephaly. Most tubular bones of the limbs, as well as the clavicles, are affected by sclerosis.[ncbi.nlm.nih.gov]
  • In 1974, another doctor presented three more cases of lionitis, drawing attention to the fact that this condition might have a genetic cause.[healthh.com]
  • These syndromes present with multiple ENT symptomatology from an early age. The diagnostic distinction can now be made radiologically by serial skeletal survey which is important for prognosis.[ncbi.nlm.nih.gov]
  • Case Report A 10-year-old-female child presented to our hospital with left-sided epiphora and abnormal features. There was no family history of similar complaints or other genetic disorders.[ijo.in]
  • We tested the hypothesis that craniodiaphyseal dysplasia (CDD) (MIM 122860), an extremely rare sclerosing bone dysplasia resulting facial distortion referred to as "leontiasis ossea", could also be caused by SOST mutations.[ncbi.nlm.nih.gov]
  • References de Souza O (1927) Leontiasis ossea. Case reports. Porto Alegre Fac Med 13: 47 Google Scholar Gemmell JH (1935) Leontiasis ossea: A clinical and roentgenological entity: Report of a case. Radiology 25:723 Gorlin RJ, Spranger J.[link.springer.com]
  • The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine faces) and the bone deposition results in progressive stenosis of craniofacial foramina.[nectarmutation.org]
Postural Defect
  • In some cases, a postural defect in the metaphyses may also be noted. Craniodiaphyseal dysplasia Causes It is supposed to be hereditary, although the underlying genetics is unclear. The disease is acquired in an autosomal recessive fashion.[primehealthchannel.com]
  • defect in the metaphyses Some of the complications of CDD are severe facial deformity, facial diplegia, complete hearing inability, nasolacrimal obstruction, quadriparesis, significant brain compression, mechanical damage of nerve fibers and deformation[ehealthhall.com]


  • We report the only case of CDD in an adult, with stenosis of the cervical canal leading to quadriparesis as a late complication of hyperostosis, and describe the problems associated with its treatment.[ncbi.nlm.nih.gov]
  • […] the clinical, radiological, computed tomography (CT) scan, otological, audiological and histopathological findings in two cases with craniodiaphyseal, and two cases with craniometaphyseal dysplasia, and report our experiences of medical and surgical treatment[ncbi.nlm.nih.gov]
  • Thus, therapeutic agents ameliorating protein folding or the UPR can be considered as a potential therapeutic treatment.[ncbi.nlm.nih.gov]
  • Treatment options are available to manage craniodiaphyseal dysplasia, including surgery and medications to improve quality of life.[wisegeekhealth.com]
  • Rapidly consult with trusted authorities thanks to new expert-opinion treatment strategies and recommendations. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography.[books.google.de]


  • The diagnostic distinction can now be made radiologically by serial skeletal survey which is important for prognosis.[ncbi.nlm.nih.gov]
  • Prognosis - Craniodiaphyseal dysplasia Not supplied. Treatment - Craniodiaphyseal dysplasia Not supplied. Resources - Craniodiaphyseal dysplasia Not supplied.[checkorphan.org]
  • Pictures Prognosis The prognosis of CDD is poor despite some management done. The advantages of performing craniofacial remodeling, choanal stenosis surgery and dacryocystorhinostomy among patients is only good for a short period.[ehealthhall.com]
  • Craniodiaphyseal dysplasia Prognosis The outcome is poor. Generally, benefits from dacryocystorhinostomy, craniofacial remodeling and choanal stenosis surgery persist only for a short time.[primehealthchannel.com]
  • Life Expectancy As the progression of this condition cannot be kept under control and no treatment has been found, the prognosis is negative.[healthh.com]


  • Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular[books.google.de]
  • The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations.[books.google.com]
  • Relevant External Links for SOST Genetic Association Database (GAD) SOST Human Genome Epidemiology (HuGE) Navigator SOST Atlas of Genetics and Cytogenetics in Oncology and Haematology: SOST No data available for Genatlas for SOST Gene Bone dysplasia sclerosteosis[genecards.org]
Sex distribution
Age distribution


  • Although the syndrome is rare, its pathophysiological and therapeutic considerations may be applicable to the management of stenosis of the spinal canal in other hyperostotic bone disorders.[ncbi.nlm.nih.gov]
  • Although this disorder is rare, the pathophysiologic considerations relevant to pregnancy outcome may be applicable to the management of pregnant women with other hyperostotic bone dysplasias.[ncbi.nlm.nih.gov]


  • Heterozygous mutations located in the secretion signal of the SOST gene prevent sclerostin secretion and can be responsible for craniodiaphyseal dysplasia.[nectarmutation.org]
  • Prevention - Craniodiaphyseal dysplasia Not supplied.[checkorphan.org]
  • It has been observed heterozygous mutations located in the secretion signal of the SOST gene in two CDD patients and demonstrated that these SOST mutations prevent sclerostin secretion resulting in increased bone formation.[iofbonehealth.org]
  • It is always best to seek medical attention at an early phase of life, particularly even during infancy period, so that earlier management can be started to control and prevent the progression of the problem into its worst case.[ehealthhall.com]

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