Presentation
However, if the patient presents later in life, the presentation may not be similar to that seen in childhood, and management changes accordingly. [karger.com]
It usually presents with intractable focal epilepsy and cognitive defects in children. [ncbi.nlm.nih.gov]
Syndactyly, as described by Apert, [6], [7] was also present. [jiaomr.in]
The numbered bands specify the location of the thousands of genes that are present on each chromosome. [rarediseases.org]
Our patient, unlike the other cases reported in literature, presented its first neurological manifestation at the age of 24. [scielo.br]
Entire Body System
- Inguinal Hernia
[…] anteriorly placed anus Head And Neck Teeth: hypodontia neonatal teeth delayed eruption of secondary teeth Neurologic Central Nervous System: developmental delay hypoplastic corpus callosum dilated virchow-robin spaces Genitourinary External Genitalia Male: inguinal [malacards.org]
Bilateral inguinal herniae were present from 3 months and repaired at 4 months of age. Ophthalmological examination showed a hypoplastic left disc and a small coloboma of the right disc. [jmg.bmj.com]
[…] astigmatism 0000484 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Hypodontia Failure of development of between one and six teeth 0000668 Hypoplasia of the corpus callosum Underdevelopment of part of brain called corpus callosum 0002079 Inguinal [rarediseases.info.nih.gov]
- Nail Abnormality
She was also noted to have thin hair and nail abnormalities. The author suggested that her features were consistent with ectodermal dysplasia and that her condition was slowly progressive in nature. No karyotype was reported for this patient. [jmg.bmj.com]
Respiratoric
Gastrointestinal
- Chronic Diarrhea
[…] clinical synopsis from OMIM: 58 Head And Neck Eyes: hypertelorism entropion hyperopic astigmatism Abdomen External Features: umbilical hernia Skin Nails Hair Hair: coarse hair Head And Neck Mouth: wide mouth high-arched palate Abdomen Gastrointestinal: chronic [malacards.org]
Showing of 25 | Percent of people who have these symptoms is not available through HPO Anteriorly placed anus 0001545 Chronic diarrhea 0002028 Coarse hair Coarse hair texture 0002208 Delayed eruption of permanent teeth Delayed eruption of adult teeth [rarediseases.info.nih.gov]
Jaw & Teeth
- High Arched Palate
Symptoms via clinical synopsis from OMIM: 58 Head And Neck Eyes: hypertelorism entropion hyperopic astigmatism Abdomen External Features: umbilical hernia Skin Nails Hair Hair: coarse hair Head And Neck Mouth: wide mouth high-arched palate Abdomen Gastrointestinal [malacards.org]
Dysmorphic features noted at birth included hypertelorism, a persistent large posterior fontanelle, a large anterior fontanelle, a narrow, high arched palate with midline cleft of the upper alveolar margin, two neonatal teeth, and a right inguinal hernia [jmg.bmj.com]
- Small Teeth
Symptoms - Sener syndrome * Small teeth * Mouth occlusion * Abnormal tissue webbing between cheeks and gum * Thin hair * Abnormal nails * Mild developmental delay Causes - Sener syndrome Not supplied. Prevention - Sener syndrome Not supplied. [checkorphan.org]
Skin
- Alopecia
2 Palmoplantar Keratoderma and Congenital Alopecia, Autosomal Dominant Papillon-Lefevre Syndrome Pili Torti and Developmental Delay Pilodental Dysplasia with Refractive Errors Poikiloderma with Neutropenia Polyposis, Skin Pigmentation, Alopecia, and [nfed.org]
- Sparse Hair
In some types, teeth may be missing and nails may be defective, while in another type there may be missing teeth, inability to sweat, and sparse hair. Still another may have hearing loss and defects of the enamel of the teeth. [nfed.org]
- Sparse Hair
In some types, teeth may be missing and nails may be defective, while in another type there may be missing teeth, inability to sweat, and sparse hair. Still another may have hearing loss and defects of the enamel of the teeth. [nfed.org]
Face, Head & Neck
- Hypertelorism
Figure 1 (A, B) Front and side view of case 1 showing hypertelorism, a wide mouth, and posteriorly rotated ears. [jmg.bmj.com]
Symptoms via clinical synopsis from OMIM: 58 Head And Neck Eyes: hypertelorism entropion hyperopic astigmatism Abdomen External Features: umbilical hernia Skin Nails Hair Hair: coarse hair Head And Neck Mouth: wide mouth high-arched palate Abdomen Gastrointestinal [malacards.org]
[…] eruption of permanent teeth Delayed eruption of adult teeth 0000696 Eczema 0000964 Entropion Eyelid turned in 0000621 Global developmental delay 0001263 High palate Elevated palate Increased palatal height [ more ] 0000218 Hyperopic astigmatism 0000484 Hypertelorism [rarediseases.info.nih.gov]
- Large Anterior Fontanels
Features noted at birth included neck oedema, a large anterior fontanelle (6 cm × 7 cm), a short penis with a large scrotum, and an anteriorly placed anus. [jmg.bmj.com]
- Pierre Robin Syndrome
Brainstem dysgenesis: Möbius, Cogan and Pierre Robin syndromes revisited. in Anales de Pediatría 62, 346–351 (Elsevier, 2005). 3. Roig-Quilis M, Pennington L. Oromotor disorders arising from the brainstem. In: Roig-Quilis M, Pennington L, editors. [moebiussyndrome.info]
Treatment
Focal phototherapeutic keratectomy was effective and safe for the treatment of this complication. [200.98.68.239]
Treatment - Sener syndrome Not supplied. Resources - Sener syndrome Not supplied. [checkorphan.org]
Acute fatty liver of pregnancy: diagnosis, treatment, and outcome based on 35 consecutive cases. J Matern Fetal Neonatal Med 2011;24:1143-1146. Vigil-De Gracia, Ortega-Paz L. [medigraphic.com]
You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]
Prognosis
Prognosis - Sener syndrome Not supplied. Treatment - Sener syndrome Not supplied. Resources - Sener syndrome Not supplied. [checkorphan.org]
Prognosis The prognosis of BSD depends on the cause and extent of the disruptive lesion or the impact of the abnormal developmental process involving the BS. [moebiussyndrome.info]
Treatment and prognosis Disease progression is variable in the cases reported in the literature. To date, no specific treatment is available although medical management of epilepsy, edema and raised intracranial pressure is often required 5. [radiopaedia.org]
Prognosis is influenced by the occurrence of intussusception and malignant tumors associated with Peutz-Jeghers syndrome. Therefore, long-term careful follow-up is important. [ci.nii.ac.jp]
Prognosis is better if the onset of hemiparesis is after 2 years of age and in absence of prolonged or recurrent seizure.[ 9 ] Hemispherectomy is the treatment of choice for children with intractable disabling seizures and hemiplegia with a success rate [ncbi.nlm.nih.gov]
Etiology
However, the underlying etiologies remain unknown in most of the cases and are yet to be elucidated. [bmcophthalmol.biomedcentral.com]
The most important signs of inelastic tendon etiology include positive forced duction that is worse with retropulsion, intorsion in upgaze, and negative forced duction after transecting the superior oblique tendon. [emedicine.medscape.com]
Probable parasitic etiology was eliminated by negative reaction of the decalcified slides with methanamine silver. [ajnr.org]
In conclusion, the etiology of LCC remains unknown. In spite of relatively characteristic findings in imaging and histopathological examination, there is no uniformity in the clinical findings noted in the published articles. [scielo.br]
Absence of other possible etiologies B. Inducible clonus plus agitation or diaphoresis 3. No recent addition or increase of a neuroleptic agent C. Ocular clonus plus agitation or diaphoresis 4. [physio-pedia.com]
Epidemiology
Trisomies 13 and 18: prenatal diagnosis and epidemiologic studies in Hawaii, 1986-1997. Genet Test 3(4):335-40, 1999. 31 12. Redheendran R, Neu RL, Bannerman RM. [passeidireto.com]
[…] activity results in increased enzyme substrate and abnormal actin-binding proteins important in neuronal morphogenesis. [4, 5] Fibroblast activity was found to be decreased by 80%-90% in patients with Lowe syndrome compared to healthy controls. [6] Epidemiology [emedicine.medscape.com]
Pathophysiology
Nephrotic syndrome: new concepts in the pathophysiology of sodium retention. J. Nephrology. 2008; 21 (6): 836–842. 2. Rondon-Berries H. New insights into the pathophysiology of oedema in nephritic syndrome. Nefrologia. 2011; 31 (2): 148–154. 3. [pf.spr-journal.ru]
The underlying pathophysiology is thought to be a diffuse cerebral microangiopathy resulting in initially microcystic, followed by macrocystic, parenchymal degeneration 1. [radiopaedia.org]
Pathophysiology of Sturge-Weber syndrome. J Child Neurol. 18(8): 509—516. http://dx.doi.org/10.1177/08830738030180080701 ; PMid:13677575 18. Demougeot C, Garnier P, Mossiat C. 2001. [med-expert.com.ua]
Osteoarthritis Spondylolisthesis Obesity Smoking Malnutrition Lack of physical exercise or daily activity Pathophysiology [ edit ] 55% of facet syndrome cases occur in cervical vertebrae, and 31% in lumbar. [en.wikipedia.org]
These imaging findings support increased water content rather than a demyelinating process in the pathophysiology of the disease, which is in accordance with the reports. 1, 2 The increased water within the white matter—namely, perifocal white matter [ajnr.org]
Prevention
Prevention - Sener syndrome Not supplied. Diagnosis - Sener syndrome The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Sener syndrome. [checkorphan.org]
Congenital fibrosis of the extraocular muscles prevents the normal development and function of these muscles. As a result, affected individuals are unable to move their eyes normally. [ghr.nlm.nih.gov]
A thread sutured to the packing will prevent to forget the packing in the nasopharynx. [egms.de]
Low-dose spinal anesthesia for Cesarean section to prevent spinal-induced hypotension. Curr Opin Anaesthesiol. 2008;21:259-262. Loubert C. [medigraphic.com]