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Sclerostin: Intracellular mechanisms of action and its role in the pathogenesis of skeletal and vascular disorders.

Adv Clin Exp Med 2017; 26 (8): 1283-1291

Sclerostin is a glycoprotein involved in the regulation of bone metabolism, exclusively secreted by osteocytes. It affects the activity of bone morphogenetic proteins (BMPs) and is an inhibitor of the Wnt/beta-catenin metabolic pathway in bone cells. Osteocytes reduce the release of sclerostin in response to mechanical stimuli acting on bone, and thus promote the activation of osteogenic pathway Wnt/beta-catenin in osteoblasts. This signaling pathway plays a key role in osteogenesis and bone turnover. Loss of sclerostin gene function is related to 3 different craniotubular hyperostosis processes: sclerosteosis, craniodiaphyseal dysplasia, and van Buchem disease. Additionally, experimental and clinical studies suggest that sclerostin may promote vascular calcification. Antibodies directed against sclerostin stimulate bone formation and represent a new therapeutic option in the treatment of diseases with increased bone resorption, such as osteoporosis and inflammatory diseases where there is generalized bone loss, periarticular osteoporosis, and cartilage damage, such as rheumatoid arthritis (RA), ankylosing spondylitis (AS), and glucocorticoid-induced osteoporosis (GIO). Antibody use has the potential to offer new therapeutic approaches in the therapy of mineral and bone disorders resulting from chronic kidney disease (CKD-MBD) and vascular calcifications.


The Erlenmeyer flask bone deformity in the skeletal dysplasias.

Am J Med Genet A 2009; 149A (6): 1334-45

Erlenmeyer flask bone deformity (EFD) is a long-standing term used to describe a specific abnormality of the distal femora. The deformity consists of lack of modeling of the di-metaphysis with abnormal cortical thinning and lack of the concave di-metaphyseal curve resulting in an Erlenmeyer flask-like appearance. Utilizing a literature review and cohort study of 12 disorders we found 20 distinct disorders were associated with EFD. We interrogated the International Skeletal Dysplasia Registry (ISDR) radiographic database (1988-2007) to determine which skeletal dysplasias or syndromes were highly associated with EFD, whether it was a uniform finding in these disorders, and if forms of EFD could be differentiated. EFD was classified into three groups. The first catogory was the typical EFD shaped bone (EFD-T) resultant from absent normal di-metaphyseal modeling with relatively normal appearing radiographic trabecular bone. EFD-T was identified in: frontometaphyseal dysplasia, craniometaphyseal dysplasia, craniodiaphyseal dysplasia, diaphyseal dysplasia-Engelmann type, metaphyseal dysplasia-Pyle type, Melnick-Needles osteodysplasty, and otopalatodigital syndrome type I. The second group was the atypical type (EFD-A) due to absence of normal di-metaphyseal modeling with abnormal radiographic appearance of trabecular bone and was seen in dysosteosclerosis and osteopetrosis. The third group was EFD-marrow expansion type (EFD-ME) in which bone marrow hyperplasia or infiltration leads to abnormal modeling (e.g., Gaucher disease). Further, radiographic review determined that it was not always a consistent finding and that there was variability in both appearance and location within the skeleton. This analysis and classification aided in differentiating disorders with the finding of EFD.

  • Erlenmeyer flask bone deformity
  • *19444897*

    Nasolacrimal obstruction and facial bone histopathology in craniodiaphyseal dysplasia.

    Br J Ophthalmol 1994; 78 (6): 501-3


    Fractures in connection with an atypical form of craniodiaphyseal dysplasia: case report of a boy and his mother.

    Clinics (Sao Paulo) 2012; 67 (12): 1505-9


    Craniodiaphyseal dysplasia: an unusual cause of recurrent dacryocystitis.

    Indian J Ophthalmol 2007; 55 (3): 219-21

    We describe a rare syndrome characterized by severe craniofacial hyperostosis, sclerosis, obliteration of paranasal sinuses and foramina of skull base, in a 10-year-old female child who presented with abnormal facial features and recurrent dacryocystitis due to narrowing of nasolacrimal duct.


    Reversing LRP5-dependent osteoporosis and SOST deficiency-induced sclerosing bone disorders by altering WNT signaling activity.

    J Bone Miner Res 2014; 29 (1): 29-42

    The bone formation inhibitor sclerostin encoded by SOST binds in vitro to low-density lipoprotein receptor-related protein (LRP) 5/6 Wnt co-receptors, thereby inhibiting Wnt/beta-catenin signaling, a central pathway of skeletal homeostasis. Lrp5/LRP5 deficiency results in osteoporosis-pseudoglioma (OPPG), whereas Sost/SOST deficiency induces lifelong bone gain in mice and humans. Here, we analyzed the bone phenotype of mice lacking Sost (Sost(-/-) ), Lrp5 (Lrp5(-/-) ), or both (Sost(-/-) ;Lrp5(-/-) ) to elucidate the mechanism of action of Sost in vivo. Sost deficiency-induced bone gain was significantly blunted in Sost(-/-) ;Lrp5(-/-) mice. Yet the Lrp5 OPPG phenotype was fully rescued in Sost(-/-) ;Lrp5(-/-) mice and most bone parameters were elevated relative to wild-type. To test whether the remaining bone increases in Sost(-/-) ;Lrp5(-/-) animals depend on Lrp6, we treated wild-type, Sost(-/-) , and Sost(-/-) ;Lrp5(-/-) mice with distinct Lrp6 function blocking antibodies. Selective blockage of Wnt1 class-mediated Lrp6 signaling reduced cancellous bone mass and density in wild-type mice. Surprisingly, it reversed the abnormal bone gain in Sost(-/-) and Sost(-/-) ;Lrp5(-/-) mice to wild-type levels irrespective of enhancement or blockage of Wnt3a class-mediated Lrp6 activity. Thus, whereas Sost deficiency-induced bone anabolism partially requires Lrp5, it fully depends on Wnt1 class-induced Lrp6 activity. These findings indicate: first, that OPPG syndrome patients suffering from LRP5 loss-of-function should benefit from principles antagonizing SOST/sclerostin action; and second, that therapeutic WNT signaling inhibitors may stop the debilitating bone overgrowth in sclerosing disorders related to SOST deficiency, such as sclerosteosis, van Buchem disease, and autosomal dominant craniodiaphyseal dysplasia, which are rare disorders without viable treatment options.


    Craniodiaphyseal dysplasia.

    J Med Genet 1990; 27 (11): 701-6

  • Craniodiaphyseal dysplasia
  • *2277386*

    Beyond PubMed : called unfree

    Craniotubular dysplasia with severe postnatal growth retardation, mental retardation, ectodermal dysplasia, and loose skin: Lenz-Majewski-like syndrome.

    Am J Med Genet 1997; 71 (1): 87-92

    The heterogeneous group of craniotubular dysplasias is characterized by modeling errors of the craniofacial and tubular bones. Some conditions in this category cause not only skeletal abnormalities but also a variety of mesoectodermal dysplasias, as exemplified in Lenz-Majewski syndrome (MIM 151050), which comprises craniodiaphyseal dysplasia, failure to thrive, mental retardation, proximal symphalangism, enamel hypoplasia, and loose skin. We report on a boy with a hitherto unknown multisystem disorder, including skeletal changes that were regarded as a form of craniotubular dysplasia. The patient had a large head, exophthalmos, a broad nasal root, anteverted nostrils, large auricles, thick lips, micrognathia, severe postnatal growth retardation with emaciation, severe mental retardation, sparse hair growth, enamel hypoplasia, and thin, loose skin with hyperlaxity. Skeletal changes consisted of thickened calvaria, sclerosis of the skull base and facial bones, thick ribs, and metaphyseal undermodeling of the tubular bones. In addition, generalized osteopenia was evident. The present disorder overlaps phenotypically with Lenz-Majewski syndrome; nevertheless, the absence of diaphyseal hyperostosis and proximal symphalangism in the present patient was not consistent with Lenz-Majewski syndrome.


    A boy with severe craniodiaphyseal dysplasia and apparently normal mother.

    Am J Med Genet A 2007; 143A (20): 2435-43

    We describe a boy and his mother affected with craniodiaphyseal dysplasia (CDD). The boy had a very severe form of the disease with extensive osteosclerosis already at birth. Facial diplegia, bilateral hearing loss and optic nerve atrophy were early, severe complications of the disease. At age 7 years progressive genu valgum and unusual epimetaphyseal radiographic appearances suggested hyperparathyroidism. This was confirmed by biochemical tests. Because of some facial similarity between the asymptomatic mother and the propositus, a limited skeletal survey of the mother was performed. It demonstrated cranial osteosclerosis and hyperostosis. It is possible that the mother has somatic mosaicism for a mutation of the genes causing CDD.


    Management and outcome of two pregnancies in a woman with craniodiaphyseal dysplasia.

    Am J Perinatol 1991; 8 (1): 56-61

    Hyperostotic bone dysplasias are characterized by progressive hyperostosis and sclerosis of the cranium and facial bones. As a result of progressive bony overgrowth, intracranial pressure may increase and lead to brain and nerve compression, cranial nerve palsies, and an increased incidence of seizures. The long bones often exhibit defective modeling as well as variable degrees of metaphyseal and diaphyseal hyperostosis. In addition, the axial skeleton (including the pelvis) is often hyperostotic and sclerotic. The clinical features of these disorders may have relevance to the outcome of pregnancy; however, there are no reports on the management and pregnancy outcome of patients affected with hyperostotic bone disease. In this report, we describe the course of two pregnancies in a woman with craniodiaphyseal dysplasia (a rare craniotubular dysplasia). Prenatal assessment, method of delivery, choice of anesthesia, and neonatal management are discussed. 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.


    Temporal bone findings in craniodiaphyseal dysplasia.

    Auris Nasus Larynx 1993; 20 (4): 255-61

    To our knowledge, this is the first description of the histopathology of the temporal bone from a case of craniodiaphyseal dysplasia. The air spaces of the mastoid, external auditory canal, and middle ear cavity are reduced by hyperostotic bone. The ossicles are also deformed by the bony overgrowth. Anomalous ossicles with hyperostosis could affect the air conduction. Even though the internal auditory canal is somewhat elongated and narrow, no labyrinthine abnormalities can be attributed to the abnormal bone. Facial nerves run through abnormal courses but the geniculate ganglion cells are not involved. The VIIIth nerve dysfunction in this case could be due to mechanical damage of the nerve fibers and/or impaired vascular supply by the hyperostosis.


    Craniodiaphyseal dysplasia.

    Birth Defects Orig Artic Ser 1975; 11 (6): 359-62


    Intracranial and extracranial reduction osteoplasty for craniodiaphyseal dysplasia.

    Cleft Palate Craniofac J 1996; 33 (4): 284-90

    Craniodiaphyseal dysplasia is a rare, sporadic form of craniotubular bone dysplasia, characterized by massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, leading to severe deformity. The clinical course is typically characterized by progressive encroachment of the craniofacial foramina and brain by the relentless deposition of bone. Compression of cranial nerves, the foramen magnum, and intracranial contents commonly leads to blindness, loss of hearing, and death. This report describes a unique case of craniodiaphyseal dysplasia manifesting with asymmetric craniofacial and axial hyperostosis. The tubular bones demonstrated the characteristic diaphyseal endostosis, undertubulation, and relative overgrowth on the involved side. Significant brain compression with signs and symptoms of increased intracranial pressure was managed successfully with decompressing craniectomy at age 12 years, enlarging the anterior and middle fossae. Calvarial thickness measured nearly 4 cm. Further calvarial, midfacial, and mandibular recontouring were performed 6 and 22 months later. Follow-up in our case indicates that close observation is mandatory to manage further progression of the disease.


    Macrocephaly and sclerosis of the tubular bones in an isolated patient: a mild case of craniodiaphyseal dysplasia?

    Clin Dysmorphol 2003; 12 (4): 245-50

    We report a 56-year-old woman, mainly suffering from painful legs and the inability to run. 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. By mutation analysis of the TGFB1, SOST and LRP5 genes, we were able to exclude the diagnoses of Camurati-Engelmann disease, Van Buchem disease, sclerosteosis, high-bone-mass trait and endosteal hyperostosis (Worth type). We believe this patient represents one of the very few examples of adult craniodiaphyseal dysplasia with a mild form of the disease and moderate facial changes.


    Dominantly inherited craniodiaphyseal dysplasia: a new craniotubular dysplasia.

    Clin Genet 1986; 30 (5): 381-91

    We describe a mother and her male infant affected with a craniotubular dysplasia characterized by severe craniofacial hyperostosis and sclerosis with obliteration of paranasal sinuses and foramina of the skull base. Subsequent severe bilateral hearing loss and facial diplegia with relative sparing of the optic nerves were noted. The long bones show extreme asymmetric hyperostosis and sclerosis of the diaphyses and evidence of a modelling defect in the metaphyses. The spine, ribs, clavicles, and pelvis all show some degree of sclerosis and defective modelling, but are less severely involved. According to the definition by Gorlin, this disorder would best be classified as craniodiaphyseal dysplasia. Distinguishing features in these two patients as contrasted to previously described cases include a greater degree of hyperostosis and sclerosis than that described for other patients with craniodiaphyseal dysplasia, apparent dominant transmission, and significant metaphyseal involvement.


    Lacrimo-auriculo-dento-digital syndrome with unilateral inner ear dysplasia and craniocervical osseous abnormalities: case report and review of literature.

    Clin Neuroradiol 2013; 23 (3): 221-4


    Bone scan findings in craniometaphyseal dysplasia.

    Clin Nucl Med 1993; 18 (2): 137-9

    Craniometaphyseal dysplasia is a rare genetic bone disorder characterized by undertubulation of the long bones, especially in the lower extremities, and sclerosis of the skull base. Differentiation from other sclerosing bone dysplasias, including metaphyseal dysplasia (Pyle's disease), craniodiaphyseal dysplasia, and diaphyseal dysplasia is based largely on characteristic radiographic findings. Radionuclide bone scans usually are not necessary for diagnosis, but are helpful in demonstrating the abnormal bone metabolism. The authors report the first whole-body bone images in a patient with craniometaphyseal dysplasia, demonstrating the abnormal bone activity over time.


    Miscellaneous Bone Disorders.

    Endocr Dev 2015; 28 (): 226-46

    This chapter deals with a few of the important childhood bone disorders associated with high bone mass as well as conditions associated with fragility fractures and limb deformities that have not been addressed in previous chapters. A couple of skeletal dysplasias that can sometimes be confused with rickets are also dealt with in this chapter.


    Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia.

    Hum Genet 2011; 129 (5): 497-502

    Sclerosteosis and Van Buchem disease are related recessive sclerosing bone dysplasias caused by alterations in the SOST gene. 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. We discovered mutations c.61G>A (Val21Met) and c.61G>T (Val21Leu) two children with CDD. As these mutations are located in the secretion signal of the SOST gene, we tested their effect on secretion by transfecting the mutant constructs into 293E cells. Intriguingly, these mutations greatly reduced the secretion of SOST. We conclude that CDD, the most severe form of sclerotic bone disease, is part of a spectrum of disease caused by mutations in SOST. Unlike the other SOST-related conditions, sclerosteosis and Van Buchem disease that are inherited as recessive traits seem to be caused by a dominant negative mechanism.


    Activating the unfolded protein response in osteocytes causes hyperostosis consistent with craniodiaphyseal dysplasia.

    Hum Mol Genet 2017; 26 (23): 4572-4587

    Bone remodeling is a balanced process between bone synthesis and degradation, maintaining homeostasis and a constant bone mass in adult life. Imbalance will lead to conditions such as osteoporosis or hyperostosis. Osteoblasts build bone, becoming embedded in bone matrix as mature osteocytes. Osteocytes have a role in sensing and translating mechanical loads into biochemical signals, regulating the differentiation and activity of osteoblasts residing at the bone surface through the secretion of Sclerostin (SOST), an inhibitor of WNT signaling. Excessive mechanical load can lead to activation of cellular stress responses altering cell behavior and differentiation. The unfolded protein response (UPR) is a shared pathway utilized by cells to cope with stress stimuli. We showed that in a transgenic mouse model, activation of the UPR in early differentiating osteocytes delays maturation, maintaining active bone synthesis. In addition, expression of SOST is delayed or suppressed; resulting in active WNT signaling and enhanced periosteal bone formation, and the combined outcome is generalized hyperostosis. A clear relationship between the activation of the unfolded protein response was established and the onset of hyperostosis that can be suppressed with a chemical chaperone, sodium 4-phenobutyrate (4-PBA). As the phenotype is highly consistent with craniodiaphyseal dysplasia (CDD; OMIM 122860), we propose activation of the UPR could be part of the disease mechanism for CDD patients as these patients are heterozygous for SOST mutations that impair protein folding and secretion. Thus, therapeutic agents ameliorating protein folding or the UPR can be considered as a potential therapeutic treatment.


    Craniodiaphyseal dysplasia: A Rare And Successful Bone-Anchored Hearing Aid Implantation.

    Int J Pediatr Otorhinolaryngol 2019; 123 (): 202-205;

    Craniodiaphysial dysplasia is an extremely rare genetic disorder characterized by a severe form of bone dysplasia and a distinctive facial dysmorphisms, as a result of a massive generalized hyperostosis and sclerosis, primarily involving the facial bones and the skull. We present a 10-years-old girl referred to an otolaryngology consultation with complaints of progressive hearing loss. The clinical aspects, pathogenesis and management of this disease are also review in this paper. Furthermore, we describe the first case of craniodiaphysial dysplasia rehabilitated with Bone-Anchored Hearing Aid, despite the concerns inherent to the involvement of the skull bone that characterizes the disease.


    Stenosis of the cervical canal in craniodiaphyseal dysplasia.

    J Bone Joint Surg Br 2001; 83 (3): 328-31

    Craniodiaphyseal dysplasia (CDD) is a rare sclerosing bone disorder, the severity of which depends on its phenotypic expression. Hyperostosis can cause progressive foraminal stenosis leading to palsy of cranial nerves, epilepsy and mental retardation. 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. 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.


    "Osteopetrosis" in the Fairbank Collection.

    J Bone Joint Surg Br 1978; 60 (1): 53-5

    The "osteopetrosis" section of the Fairbank Collection in the Radiology Museum of the Royal National Orthopaedic Hospital contains radiographs and case notes of twenty-two patients. This material has been reviewed in terms of modern concepts in an attempt to obtain a long-term follow-up and a firm diagnosis in each individual. Nine patients proved to have the classical autosomal dominant form of osteopetrosis, four had the malignant autosomal recessive type, craniometaphyseal dysplasia was present in two kindreds and isolated individuals had pyknodysostosis, atypical craniodiaphyseal dysplasia and craniosclerosis with osteopathia striata. As these conditions differ greatly in their clinical and genetic prognoses, diagnostic categorisation is of practical importance.


    Craniodiaphyseal dysplasia, a disease or group of diseases?

    J Can Assoc Radiol 1974; 25 (1): 22-33


    Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management.

    J Laryngol Otol 1996; 110 (4): 328-38

    Craniometaphyseal and craniodiaphyseal dysplasia are rare genetic disorders of bone due to modelling errors of long bones and skull bones. 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. We review 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 to date. In the craniodiaphyseal dysplasia, the hearing abnormality progressed from an initial conductive to a mixed loss on serial audiometric follow up. Temporal bone CT scans showed narrowing of the middle ear cavity, internal auditory meatus, and facial nerve canal at the geniculate ganglion. Benefits from choanal stenosis surgery, craniofacial remodelling and dacrocystorhinostomy were shortlived. Calcitriol therapy with a low calcium diet did not alter the clinical course of progression in our cases. The underlying defect, causing net bone formation in these phenotypically similar syndromes, appears to be different when based on the differing biochemical responses to calcitriol and bone biopsy findings. Increased numbers of osteoblasts were found in bone biopsies from both cases with craniodiaphyseal dysplasia. Early recognition is crucial in these conditions as therapy directed at the underlying bony defect has the best chance of success if initiated in infancy.


    Camurati-Engelmann disease (progressive hereditary craniodiaphyseal dysplasia). Case report.

    J Neurosurg 1978; 48 (1): 138-42

    In a patient with Camurati-Engelmann disease, orbital and optic nerve decompression resulted in improvement of papilledema. Subsequent x-ray films of the optic canals, however, revealed reconstitution of osseous optic canals bilaterally, and papilledema has returned in one eye. Definitive treatment of this dysplastic metabolic bone disorder rests in the control of rapid abnormal bone formation.


    Craniodiaphyseal dysplasia. Partial suppression of osteoblastic activity in the severe progressive form with calcitonin therapy.

    J R Nav Med Serv 1987; 73 (2): 81-93


    Deep Brain Stimulation for Craniocervical Dystonia (Meige Syndrome): A Report of Four Patients and a Literature-Based Analysis of Its Treatment Effects.

    Neuromodulation 2016; 19 (8): 818-823

    OBJECTIVES: The aim of this study was to report on four patients with craniocervical dystonia (CCD) treated with deep brain stimulation (DBS). In addition, we investigated the treatment efficacy and surgical outcome predictors by the review and analysis of previously published studies. METHODS: Four patients with CCD underwent DBS of the globus pallidus internus (Gpi) or subthalamus nucleus (STN). PubMed and MEDLINE searches were performed to obtain detailed information on patients who underwent DBS for CCD. The primary efficacy endpoint was the change in the Burke-Fahn-Marsden Dystonia Rating Scale (movement and disability scores, BFMDRS-M/D) after surgery. RESULTS: Seventy-five patients were included in the pooled analysis, including 69 patients with Gpi-DBS and 6 patients with STN-DBS. The mean follow-up of time was 28.0 months after surgery. The mean BFMDRS-M score was 24.5 +/- 11.2 preoperatively and 8.1 +/- 5.7 postoperatively at the final follow-up evaluation, with a mean improvement of 66.9% (p < 0.001). The mean BFMDRS-D score was 8.1 +/- 4.6 preoperatively and 3.6 +/- 2.5 postoperatively, with a mean percentage improvement of 56.0% (p < 0.01). Positive correlations were found between each of the preoperative movement and disability scores and percentage of postoperative improvement (r = 0.247, p = 0.034; r = 0.331, p = 0.034, respectively). CONCLUSION: GPi/STN-DBS is an effective treatment for patients with medically refractory CCD, including those with severe preoperative symptoms. The age at CCD onset and the disease duration do not predict improvement in movement scores.


    [A case of craniodiaphyseal dysplasia].

    No To Hattatsu 1989; 21 (1): 69-73


    Craniodiaphyseal dysplasia; another cause of difficult intubation.

    Paediatr Anaesth 1996; 6 (3): 225-9

    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. This child was managed using laryngeal mask airway (LMA) guided fibreoptic intubation. Spontaneous respiration was maintained throughout intubation, following which ventilation was controlled and anaesthesia was provided using nitrous oxide, isoflurane and fentanyl. The perioperative management is described.


    MR imaging features of craniodiaphyseal dysplasia.

    Pediatr Radiol 2004; 34 (2): 167-70

    We report the magnetic resonance (MR) imaging findings in a 4-year-old girl with characteristic radiographic and computed tomography (CT) features of craniodiaphyseal dysplasia. MR imaging exquisitely depicted cranial nerve compression, small foramen magnum, hydrocephalus, and other intracranial complications of this syndrome. A syrinx of the cervical spinal cord was demonstrated. We suggest that MR imaging become a routine component of the evaluation of these patients.


    The skull in metaphyseal chondrodysplasia type Jansen.

    Pediatr Radiol 1975; 3 (3): 137-44

    For some reasons skull findings in Jansen's Metaphyseal Dysplasia have been largely neglected. A survey of the seven known cases (three of them being primarily observed and described by two of the authors) disclose important and constant alterations, namely pronounced basilar thickening and sclerosis, prominent supraorbital and zygomatic arches, underdevelopment of the paranasal sinuses with sclerosis of the adjacent bone, and hypoplasia of the mandible. These alterations give rise to distinct and fairly specific features. The relationship to other craniotubular disorders, such as craniodiaphyseal dysplasia, craniometaphyseal dysplasia, and frontometaphyseal dysplasia is discussed.


    Idrocefalo associato a displasia cranio-diafisaria.

    Radiol Med 1979; 65 (4): 249-52

    One case is reported of dilatation of the lateral ventricles in a patient suffering from craniodiaphyseal dysplasia, with follow up of one year. The pathogenic hypothesis personally proposed are: a) partial and intermittent compression of the aqueduct by a dolico-mega basilar artery; b) "cisternal hypofunction".


    [Craniodiaphyseal dysplasia, Lenz-Majewski type].

    Ryoikibetsu Shokogun Shirizu 2001; (33): 507-8


    [Craniodiaphyseal dysplasia].

    Ryoikibetsu Shokogun Shirizu 2001; (33): 506


    Sclerosing bone dysplasias--a target-site approach.

    Skeletal Radiol 1991; 20 (8): 561-83

    Sclerosing bone dysplasias are a poorly understood group of developmental anomalies, much of whose etiology is still obscure. The list of conditions constituting this group is relatively short: osteopetrosis (Albers-Schonberg disease), pycnodysostosis (Maroteaux-Lamy disease), enostosis (bone island), osteopoikilosis, osteopathia striata (Voorhoeve disease), progressive diaphyseal dysplasia (Camurati-Engelmann disease), hereditary multiple diaphyseal sclerosis (Ribbing disease), four types of endosteal hyperostosis (van Buchem disease, Worth disease, Nakamura disease, and Truswell-Hansen disease), dysosteosclerosis, metaphyseal dysplasia (Pyle's disease), craniometaphyseal dysplasia, melorheostosis (Leri disease), and craniodiaphyseal dysplasia. There are instances in which two or more of the above disorders coexist. These are termed "overlap syndromes", most commonly involving osteopathia striata, osteopoikilosis, and melorheostosis. A classification of these dysplasias is elaborated based on a targetsite approach that views them as disturbances in development associated with the processes of either endochondral or intramembranous bone formation, or both. Accumulated evidence suggests that many of these disorders stem from common defects in bone resorption and/or formation during the processes of skeletal maturation and modeling. Finally, the subgroup of overlap syndromes is emphasized as indicating a strong interrelationship between the sclerosing dysplasias of bone, with perhaps a common pathogenesis for many.


    Acquired Chiari malformation secondary to hyperostosis of the skull: a case report and literature review.

    Surg Neurol 2009; 72 (2): 157-61

    BACKGROUND: Most cases of generalized hyperostosis of the skull are associated with Camurati-Engelmann disease, craniodiaphyseal dysplasia, Worth-type endosteal hyperostosis, or sclerosteosis. Infrequently, a Chiari malformation may also be described. We present the case of a patient with acquired Chiari malformation secondary to hyperostotic skull formation whose findings did not fit into any of the 4 usual conditions. We review the literature on generalized hyperostosis of the skull and discuss the appropriate treatment based on our analysis of the literature and the patient's imaging results. CASE DESCRIPTION: A 26-year-old woman presented with headaches, vomiting, and visual loss. Imaging revealed hyperostosis of the skull and an acquired Chiari I malformation. Intracranial pressure was markedly increased. She underwent a reduction craniotomy with subtemporal decompression and had good clinical improvement. CONCLUSION: Chiari malformation in association with hyperostosis of the skull is an unusual finding. Our patient could not be classified into any of the 4 main hyperostotic conditions. Careful attention to imaging identified the hyperostosis and deflected treatment from the standard for Chiari I malformation, suboccipital decompression, which could have proved fatal. Instead, a reduction craniotomy with subtemporal decompression relieved the source of the increased ICP and of the downward tonsilar displacement.


    Histologic, microradiographic and electron microscopic investigations of bone tissue in a case of craniodiaphyseal dysplasia.

    Virchows Arch A Pathol Anat Histol 1977; 373 (2): 167-75

    The results of histologic, microradiographic and electron microscopic investigations carried out on two bone biopsies pertaining to a case of craniodiaphyseal dysplasia are reported. They show that the affected skeletal segments are chiefly characterized by enhancement of bone volume, and defective calcification of the bone matrix. Moreover, interstitial calcification of skeletal muscle has been found.


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