Presentation
Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive. [orpha.net]
Each diagnosis includes clinical presentation(s) of affected patients, the best sequences for imaging analysis, expected imaging sequences (in both common and uncommon presentations), and imaging examples of key features. [books.google.com]
We present imaging findings documenting complete absence of the ICAs bilaterally with bilateral CLA, which, to our knowledge, has not been previously reported. [ajnr.org]
Limb Malformations often are present 3. [mobiussyndrome.weebly.com]
Entire Body System
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Physician
Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and [books.google.com]
In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]
Ears
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Hearing Impairment
impairment 0000407 Showing of 5 Last updated: 5/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging. [rarediseases.info.nih.gov]
impairment Articulation/speech disorders Minor mid-line anomalies Club feet Hand/feet deformaties Differential Diagnosis The distribution of the facial weakness and lack of other associated palsies usually causes differentiated diagnosis. [mobiussyndrome.weebly.com]
impairment Niemann-Pick disease type A Niemann-Pick disease type C Niemann-Pick disease type C, adult neurologic onset Niemann-Pick disease type C, juvenile neurologic onset Niemann-Pick disease type C, late infantile neurologic onset Niemann-Pick disease [se-atlas.de]
Treatment
This network is dedicated to the acceleration of clinical trials in search of effective treatments for SMA. [books.google.com]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Treatment - Athabaskan brainstem dysgenesis Not supplied. Resources - Athabaskan brainstem dysgenesis [checkorphan.org]
Finding the gene that causes such an illness offers hope for prevention and treatment. [uanews.arizona.edu]
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 - Athabaskan brainstem dysgenesis Not supplied. Treatment - Athabaskan brainstem dysgenesis Not supplied. Resources - Athabaskan brainstem dysgenesis [checkorphan.org]
Care should be provided by multidisciplinary teams, in which neonatologists, pediatric neurologists, nutritionists, physical therapists, and other professionals participate, depending on the associated morbidity in order to improve its management and prognosis [degruyter.com]
Etiology
In 183 short chapters, the book provides the essentials clinicians need on symptoms/signs, diagnostic tests, and neurologic disorders of all etiologies. For this edition, Timothy A. [books.google.com]
Mobius’ syndrome: features and etiology. J Pediatr Ophthalmol Strabismus 1998;35(6):304-11; quiz 327-8. 24. D’Cruz OF, Swisher CN, Jaradeh S, Tang T, Konkol RJ. Mobius syndrome: evidence for a vascular etiology. J Child Neurol 1993;8(3):260-5. 25. [neuroophthalmology.ca]
Poland-Möbius syndrome and cocaine abuse: a relook at vascular etiology. Pediatr Neurol. 2005;32:285–7. Crossref PubMed Google Scholar [16] Roig M, Gratacòs M, Vazquez E, Del Toro M, Foguet A, Ferrer I, et al. [degruyter.com]
Poland-Möbius syndrome and cocaine abuse: A relook at vascular etiology. Pediatr. Neurol. 32, 285–287 27 Kankirawatana, P., Tennison, M. B., D’Cruz, O. & Greenwood, R. S. Möbius syndrome in infant exposed to cocaine in utero. Pediatr. [moebiussyndrome.info]
Evaluation to identify apotential etiology for this disorder was negative: fivepatients had normal tests for organic and amino aciddisorders and six patients had high resolution chromo-some studies that were normal. [docslide.com.br]
Epidemiology
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.com]
[…] syndrome Synonym(s): - ABSD - Athabascan brainstem dysgenesis syndrome - Navajo brainstem syndrome Classification (Orphanet): - Rare genetic disease - Rare neurologic disease - Rare otorhinolaryngologic disease Classification (ICD10): (no data available) Epidemiological [csbg.cnb.csic.es]
Relevant External Links for HOXA1 Genetic Association Database (GAD) HOXA1 Human Genome Epidemiology (HuGE) Navigator HOXA1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: HOXA1 No data available for Genatlas for HOXA1 Gene HOXA1 A218G [genecards.org]
Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics. JAMA pediatrics, 168(4), 371-377. Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Correa A (2010). [centogene.com]
Pathophysiology
Additional information is included concerning the pathophysiology and pathology of the disorders being discussed as well as basic information concerning the causative genes (when appropriate). [books.google.com]
Prevention
Prevention - Athabaskan brainstem dysgenesis Not supplied. Diagnosis - Athabaskan brainstem dysgenesis Not supplied. Prognosis - Athabaskan brainstem dysgenesis Not supplied. Treatment - Athabaskan brainstem dysgenesis Not supplied. [checkorphan.org]
Finding the gene that causes such an illness offers hope for prevention and treatment. [uanews.arizona.edu]
Conclusions: Early diagnosis of BSD is mainly clinical, difficult to establish unless suspected, and crucial to prevent complications. [degruyter.com]