Presentation
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]
The clinical presentation is variable, with many individuals remaining asymptomatic. [radiopaedia.org]
Entire Body System
Jaw & Teeth
- Abnormal Teeth
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]
Prosthetic planning becomes atroubling issue in such cases because of malformationand abnormal lining of the teeth and also theirquestionable future as abutment teeth. [dokumen.tips]
Cardiovascular
- Diastolic Hypertension
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]
Ears
- Low Set Ears
She was of a short stature and had low-set ears, protrusion of the bilateral temporal and occipital bones, platybasia, basilar impression, and dental anomaly. [ncbi.nlm.nih.gov]
Face, Head & Neck
- Facial Spasm
Cases of Hajdu-Cheney syndrome have occasionally been reported, a few combined with facial spasm, but Hajdu-Cheney syndrome with trigeminal neuralgia is very rare. The patient's family members were surveyed. [ncbi.nlm.nih.gov]
- Bulbous Nose
nose (Figure 1a,b).The intraoral examination revealed malocclusion,abnormal alignment, impacted teeth, and shape distur-bances with a poor oral hygiene. [dokumen.tips]
Urogenital
- Incontinence
Skeletal Radiology 23(7): 577-579, 1994 Membranous lipodystrophy (Nasu's disease): a rare cause of neuropathic urinary incontinence. [eurekamag.com]
Neurologic
- Trigeminal Neuralgia
TY - JOUR T1 - Familial osteodysplasia associated with trigeminal neuralgia: case report. [unboundmedicine.com]
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]
@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]
Familial trigeminal neuralgia. Neurol India 2002;50:87 Trigeminal neuralgia is characterized by the presence of unilateral, excruciating pain in the distribution of one or more branches of trigeminal nerve. [neurologyindia.com]
Key words : Trigeminal neuralgia, Microvascular decompression. Introduction Trigeminal neuralgia is characterized by the presence of unilateral, excruciating pain in the distribution of one or more branches of trigeminal nerve. [bioline.org.br]
- Neuralgia
TY - JOUR T1 - Familial osteodysplasia associated with trigeminal neuralgia: case report. [unboundmedicine.com]
The possible cause of the neuralgia with its relation to the osteodysplasia is briefly discussed. [ncbi.nlm.nih.gov]
@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. 7. Braga FM, Bonatelli AP, Suriano I et al : Familial trigeminal neuralgia. Surg Neurol1986; 26 : 405-408. 8. [neurologyindia.com]
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]
Workup
X-Ray
- Delayed Bone Age
Radiological manifestations include delayed bone age, cone-shaped epiphyses, shortened long tubular bones and ovoid vertebral bodies. [orpha.net]
Short stature, 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]
Treatment
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]
Awareness of the syndromal features, especially of spontaneous fractures, would detect the limitations for dental interventions and treatment planning. [ncbi.nlm.nih.gov]
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]
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 [ 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]
Prognosis
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
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]
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]
Current knowledge about pathophysiology and etiology of trigeminal neuralgia is limited. [neurologyindia.com]
Etiology The etiology of osteofibrous dysplasia, as well as the cell of origin, remains to be established. [emedicine.medscape.com]
Epidemiology
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]
IZUMO1 No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IZUMO1 Gene - elite association - COSMIC cancer census association via MalaCards Relevant External Links for IZUMO1 Genetic Association Database (GAD) IZUMO1 Human Genome Epidemiology [genecards.org]
Classically, it is known to occur in a sporadic fashion without epidemiological or genetic significance. [1] A family history of trigeminal neuralgia is uncommon. [neurologyindia.com]
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]
Pathophysiology
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]
Prevention
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]