Abstract A 24-year-old woman suffering from left trigeminal neuralgia presented with the familial occurrence of skeletal anomalies simulating Hajdu-Cheney syndrome.[ncbi.nlm.nih.gov]
Type your tag names separated by a space and hit enter Abstract A 24-year-old woman suffering from left trigeminal neuralgia presented with the familial occurrence of skeletal anomalies simulating Hajdu-Cheney syndrome.[unboundmedicine.com]
Jung wk Kim and Hideaki Itoh}, journal {Neurosurgery}, year {1984}, volume {15 4}, pages { 562-5 } } Kyo Huang Niijima , Akinori Kondo , 2 authors Hideaki Itoh Published 1984 in Neurosurgery A 24-year-old woman suffering from left trigeminal neuralgia presented[semanticscholar.org]
In the present case, with the telescopicdenture, the stress applied on the abutment teeth wasdistributed over a relatively wide area of the alveolarbone. Such a design also provided a secondary splin-ting eect on the supporting teeth.[dokumen.tips]
This book is an essential reference text for all neurologists, not just those with an interest in cognitive disorders; and for general physicians and specialists who deal with any endocrine, metabolic, vascular, or infective disorders which may compromise[books.google.com]
[…] smileFamilial osteodysplasiaS Deger et al211Oral DiseasesIn conclusion, the dentist may play an importantrole in the recognition of familial osteodysplasia,based on maxillofacial and dentoalveolar ndings,because this condition is often unrecognized bygeneral physicians[dokumen.tips]
The word medicine is derived from Latin medicus, meaning a physician, Medicine encompasses a variety of health care practices evolved to maintain and restore health by the prevention and treatment of illness.[wikivisually.com]
They were treated by different physicians by different modalities, whereas in all the three case reported here, a vascular compression was found and microvascular decompression was done.[neurologyindia.com]
She was of a shortstature and had low-set ears, protrusion of the bilateral temporal and occipital bones, platybasia, basilar impression, and dental anomaly.[ncbi.nlm.nih.gov]
Shortstature, brachydactyly, delayed bone age, osteoporosis, and hypoplasia of the acetabulae and iliac alae are usually present. Birth weight is often low. Joints may be hyperflexible as part of the generalized hypotonia.[disorders.eyes.arizona.edu]
A J R 100: 1 Google Scholar Frech Rs, McAlister Wh (1968) Medullary stenosis of the tubular bones associated with hypocalcemic convulsions and shortstature.[link.springer.com]
In conclusion, dentists appear to play an important role in the recognition of familial osteodysplasia, based on maxillofacial and dentoalveolar findings.[ncbi.nlm.nih.gov]
In con-clusion, dentists appear to play an important role in therecognition of familial osteodysplasia, based on maxillo-facial and dentoalveolar findings.[dokumen.tips]
NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2769Disease definitionFamilial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder[malacards.org]
Homepage Rare diseases Search Search for a rare disease Familial osteodysplasia, Anderson type Disease definition Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface[orpha.net]
Familial porocystic osteodysplasia with tardy progressingdementia membranous lipodystrophy nasu American Journal of Human Genetics 49(4 SUPPL): 166 1991 (PDF emailed within 1 workday: 29.90) Accession: 031419222 Download citation: RIS BibTeX Text Two[eurekamag.com]
Characteristics of the disease include multiple bone cysts with pathologic fractures, progressivedementia with seizures and abnormal EEG, calcification of basal ganglia, and death in the fourth to sixth decades.[neurology.org]
2769Disease definitionFamilial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion[malacards.org]
A 23-year-old male with familial osteodysplasia was presented in maxillofacial and dental aspects with clinical and radiological manifestations including malocclusion, abnormal teeth alignment, impacted teeth, shape disturbances including uncompleted[ncbi.nlm.nih.gov]
Neither did we detect any abnormality in bloodand urine analysis.Prognathism and malocclusion are common featuresof familial osteodysplasia.[dokumen.tips]
Disease definition Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion[orpha.net]
Prognathism with a prominent lower lip and dental malocclusion reinforce this appearance. Seizures beginning in early childhood may be difficult to control. Most patients have severe psychomotor retardation and never acquire speech.[disorders.eyes.arizona.edu]
[…] diseases and orphan drugs.Orpha Number: 2769Disease definitionFamilial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic[malacards.org]
The typical facies has a lack of vertical facial development and a functional prognathism caused by overclosure of the mandible and opening of the gonial angle. Midfacial hypoplasia and a pointed chin are characteristic.[ncbi.nlm.nih.gov]
Shendel and Delaire (1982)reported a family with familial osteodysplasia presentingmaxillo-mandibular abormalities leading to prognath-ism and partial dental agenesis.[dokumen.tips]
Familial osteodysplasia, Anderson type Disease definition Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic[orpha.net]
Prognathism with a prominent lower lip and dental malocclusion reinforce this appearance. Seizures beginning in early childhood may be difficult to control. Most patients have severe psychomotor retardation and never acquire speech.[disorders.eyes.arizona.edu]
A 23-year-old male with familial osteodysplasia was presented in maxillofacial and dental aspects with clinical and radiological manifestations including malocclusion, abnormalteeth alignment, impacted teeth, shape disturbances including uncompleted[ncbi.nlm.nih.gov]
A 23-year-old male withfamilial osteodysplasia was presented in maxillofacial anddental aspects with clinical and radiological manifesta-tions including malocclusion, abnormalteeth alignment,impacted teeth, shape disturbances including uncom-pleted coronal[dokumen.tips]
Affiliated tissues include bone, and related phenotypes are malar flattening and hypertension[malacards.org]
Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982.[orpha.net]
Also: hypertension, hyperuricemia and reduced height, Etiology unknown. Inheritance is autosomal recessive. Bibliography L. G. Anderson, A. J. Cook, P.J. Coccaro, et al: Familial osteodysplasia.[whonamedit.com]
He did not suer from any botheringsymptom such as diastolic hypertension or hyperuricae-mia. Biochemical analysis generally does not revealdiagnostic changes in patients with familial osteodyspl-asia.[dokumen.tips]
He did not suer from any botheringsymptom such as diastolichypertension or hyperuricae-mia. Biochemical analysis generally does not revealdiagnostic changes in patients with familial osteodyspl-asia.[dokumen.tips]
The authors also have had available data from the University of Cape Town SkeletalDysplasia Registry. Professors Beighton and Cremin have used as a basis for their treatise the Paris Nomenclature (the modified version of 1977).[books.google.com]
She was of a short stature and had low-setears, protrusion of the bilateral temporal and occipital bones, platybasia, basilar impression, and dental anomaly.[ncbi.nlm.nih.gov]
chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges.[malacards.org]
Midfacial hypoplasia and a pointedchin are characteristic. Alveolar and sutural bone growth in the face is diminished and associated with partial dental agenesis. Variable cranial digital markings and possible synostosis are also seen.[ncbi.nlm.nih.gov]
The craniofacialdefects consist of midfacial hypoplasia, at nasal bridge,pointedchin, depressed zygomatic bones, hypoplasiaof the petrous bone, calvarial thinning, prominenteyebrows, large ear bones, mandibular prognathism,mandible with wide angle, micromaxilla[dokumen.tips]
Craniofacial defects consist of midfacial hypoplasia, mandibular prognathism, mandible with wide angle, flat nasal bridge, micromaxilla, pointedchin, depressed zygomatic bones, calvarial thinning, brachycephaly, hypoplasia of the petrous bone, prominent[whonamedit.com]
Cases of Hajdu-Cheney syndrome have occasionally been reported, a few combined with facialspasm, but Hajdu-Cheney syndrome with trigeminal neuralgia is very rare. The patient's family members were surveyed.[ncbi.nlm.nih.gov]
Craniofacial defects consist of midfacial hypoplasia, mandibularprognathism, mandible with wide angle, flat nasal bridge, micromaxilla, pointed chin, depressed zygomatic bones, calvarial thinning, brachycephaly, hypoplasia of the petrous bone, prominent[whonamedit.com]
The craniofacialdefects consist of midfacial hypoplasia, at nasal bridge,pointed chin, depressed zygomatic bones, hypoplasiaof the petrous bone, calvarial thinning, prominenteyebrows, large ear bones, mandibularprognathism,mandible with wide angle, micromaxilla[dokumen.tips]
nose (Figure 1a,b).The intraoral examination revealed malocclusion,abnormal alignment, impacted teeth, and shape distur-bances with a poor oral hygiene.[dokumen.tips]
The possible cause of the neuralgia with its relation to the osteodysplasia is briefly discussed.[ncbi.nlm.nih.gov]
TY - JOUR T1 - Familial osteodysplasia associated with trigeminal neuralgia: case report.[unboundmedicine.com]
@article{Niijima1984FamilialOA, title {Familial osteodysplasia associated with trigeminal neuralgia: case report.}, author {Kyo Huang Niijima and Akinori Kondo and Jun-ya Ishikawa and Jung wk Kim and Hideaki Itoh}, journal {Neurosurgery}, year {1984},[semanticscholar.org]
Herzberg L : Familial trigeminal neuralgia. Arch Neurol 1980; 37 : 285-287. Braga FM, Bonatelli AP, Suriano I et al : Familial trigeminal neuralgia. Surg Neurol1986; 26 : 405-408.[bioline.org.br]
Herzberg L : Familial trigeminal neuralgia. Arch Neurol 1980; 37 : 285-287. 7. Braga FM, Bonatelli AP, Suriano I et al : Familial trigeminal neuralgia. Surg Neurol1986; 26 : 405-408. 8.[neurologyindia.com]
Abstract A 24-year-old woman suffering from left trigeminalneuralgia presented with the familial occurrence of skeletal anomalies simulating Hajdu-Cheney syndrome.[ncbi.nlm.nih.gov]
TY - JOUR T1 - Familial osteodysplasia associated with trigeminalneuralgia: case report.[unboundmedicine.com]
@article{Niijima1984FamilialOA, title {Familial osteodysplasia associated with trigeminalneuralgia: case report.}, author {Kyo Huang Niijima and Akinori Kondo and Jun-ya Ishikawa and Jung wk Kim and Hideaki Itoh}, journal {Neurosurgery}, year {1984},[semanticscholar.org]
Herzberg L : Familial trigeminalneuralgia. Arch Neurol 1980; 37 : 285-287. Braga FM, Bonatelli AP, Suriano I et al : Familial trigeminalneuralgia. Surg Neurol1986; 26 : 405-408.[bioline.org.br]
Herzberg L : Familial trigeminalneuralgia. Arch Neurol 1980; 37 : 285-287. 7. Braga FM, Bonatelli AP, Suriano I et al : Familial trigeminalneuralgia. Surg Neurol1986; 26 : 405-408. 8.[neurologyindia.com]
This book begins with an outline of the various cognitive domains and how they can be tested, before covering in depth the cognitive deficits seen not only in prototypical neurodegenerative cognitivedisorders (Alzheimer's disease, frontotemporal dementias[books.google.com]
[…] deficits seen not only in prototypical neurodegenerative cognitive disorders (Alzheimer's disease, frontotemporal dementias, Huntington's disease, prionoses), but also in other common neurological disorders which may be complicated by cognitive impairment (stroke[books.google.com]
This book begins with an outline of the various cognitive domains and how they can be tested, before covering in depth the cognitivedeficits seen not only in prototypical neurodegenerative cognitive disorders (Alzheimer's disease, frontotemporal dementias[books.google.com]
Radiological manifestations include delayedboneage, cone-shaped epiphyses, shortened long tubular bones and ovoid vertebral bodies.[orpha.net]
Short stature, brachydactyly, delayedboneage, osteoporosis, and hypoplasia of the acetabulae and iliac alae are usually present. Birth weight is often low. Joints may be hyperflexible as part of the generalized hypotonia.[disorders.eyes.arizona.edu]
Awareness of the syndromal features, especially of spontaneous fractures, would detect the limitations for dental interventions and treatment planning.[ncbi.nlm.nih.gov]
[…] photographs of normal and abnormal skin conditions including images of rare conditions, this easily accessible resource is essential for pediatricians, neonatologists, and dermatologists as well as other healthcare professionals involved in the diagnosis and treatment[books.google.com]
Refrainingfrom excess force during dental treatment and providingoptimal occlusal stress distribution in the prostheticplanning are essential in familial osteodysplasia.The aim of the report was to draw attention to thisrare and lesser-known syndrome[dokumen.tips]
Treatment: No treatment is known Prognosis: Lethal in the neonate Ancillary treatments and support: None available Specialists and specialty centers: Pediatrician, Neonatologist References: Lahiry, P., Wang, J., Robinson, J.F., Turowec, J.P., Litchfield[wohproject.org]
Babies with birth defects often need special care and treatments. The treatments may include surgery, medicines, assistive devices, and therapies. Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ][icdlist.com]
Treatment: No treatment is known Prognosis: Lethal in the neonate Ancillary treatments and support: None available Specialists and specialty centers: Pediatrician, Neonatologist References: Lahiry, P., Wang, J., Robinson, J.F., Turowec, J.P., Litchfield[wohproject.org]
Treatment and prognosis Primary familial brain calcification (Fahr disease) progresses steadily, and there currently is no known cure or specific treatment.[radiopaedia.org]
In contrast, Park et al reported 38 males and 42 females in their series of 80 patients. [25] Prognosis The natural history of osteofibrous dysplasia is unpredictable. [26] The growth rate can range from slow to rapid, and spontaneous resolution is possible[emedicine.medscape.com]
Etiology Mutations have been found in the ADAMTSL2 and FBN1 genes which appear to induce microfibrillar network disorganization and enhanced TGF-beta signaling.[orpha.net]
Current knowledge about pathophysiology and etiology of trigeminal neuralgia is limited.[neurologyindia.com]
Also: hypertension, hyperuricemia and reduced height, Etiology unknown. Inheritance is autosomal recessive. Bibliography L. G. Anderson, A. J. Cook, P.J. Coccaro, et al: Familial osteodysplasia.[whonamedit.com]
Etiology The etiology of osteofibrous dysplasia, as well as the cell of origin, remains to be established.[emedicine.medscape.com]
Summary Epidemiology Fewer than 30 cases have been reported to date. Clinical description The characteristic facial appearance (''happy'' face) consists in a shortened nose, full cheeks, hypertelorism, long flat philtrum, and a thin upper lip.[orpha.net]
Classically, it is known to occur in a sporadic fashion without epidemiological or genetic significance. 1 A family history of trigeminal neuralgia is uncommon.[bioline.org.br]
Epidemiology Osteofibrous dysplasia usually is diagnosed in children younger than 10 years, with a peak incidence in children aged 1-5 years.[emedicine.medscape.com]
Current knowledge about pathophysiology and etiology of trigeminal neuralgia is limited.[neurologyindia.com]
Human Press, Totowa, NJ, S 237–274 Google Scholar Chattopadhyay N, Mithal A, Brown EM (1996) The calcium-sensing receptor: a window into the physiology and pathophysiology of mineral ion metabolism.[link.springer.com]
H&E stain Pathophysiology [ edit ] Fibrous dysplasia is a mosaic disease resulting from post-zygotic activating mutations of the GNAS locus at 20q13.2-q13.3, which codes for the α subunit of the G s G-coupled protein receptor. [9] In bone, constitutive[en.wikipedia.org]
Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ][icdlist.com]
Medizin – Medicine is the science and practice of the diagnosis, treatment, and prevention of disease.[wikivisually.com]
Treatment [ edit ] Treatment in fibrous dysplasia is mainly palliative, and is focused on managing fractures and preventing deformity. There are no medications capable of altering the disease course.[en.wikipedia.org]
Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia. Am J Hum Genet. 2015 Dec 3. 97 (6):837-47. [Medline]. Anderson MJ, Townsend DR, Johnston JO, Bohay DR. Osteofibrous dysplasia in the newborn. Report of a case.[emedicine.medscape.com]