The imaging indicates a clear presentation of the DWM with bilateral buphthalmos and vitreous haemorrhage on ocular investigations. The clinical presentation along with extensive history and radiological examinations confirms the diagnosis. [ncbi.nlm.nih.gov]

Congenital lobar emphysema (CLE) represents overexpansion of a pulmonary lobe with resultant compression of the remaining ipsilateral lung which usually presents in the newborn period as respiratory distress but may remain asymptomatic and present later [pediatriconcall.com]

The authors report a 6-year-old boy <strong>with</strong> PMM2-CDG who presented <strong>with</strong> mild mental retardation, microcephaly, facial dysmorphysm, concomitant convergent strabismus, pseudobulbar, cerebellar <strong>and</strong> epileptic [yumpu.com]

The common presenting symptom and associated central nervous system anomaly were enlargement of head and occipital encephalocele, respectively. Eleven out of 13 patients were treated surgically after stabilization of systemic medical status. [karger.com]

Renier121 presented an overview of more than 2137 patients with craniosynostosis. [journals.lww.com]

• Epilepsy

  […] occipital calcifications Cennamo Gangemi syndrome Central nervous system protozoal infections Central type neurofibromatosis Centromeric instability immunodeficiency syndrome Centrotemporal epilepsy Cephalopolysyndactyly Cerebellar ataxia areflexia pes [en.wikipedia.org]

  "Epilepsy in a patient with ataxia caused by vitamin E deficiency". BMJ Case Rep. 2011. doi:10.1136/bcr.01.2011.3728. PMID 22696689. ↑ Henschen F (1976). "[Morgagni's syndrome]". Virchows Arch A Pathol Anat Histol (in German). 370 (1): 1–11. [wikidoc.org]

  X-linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27. J Med Genet1999;36:759–66. ↵ Pettigrew AL, Jackson LG, Ledbetter DH. [jmg.bmj.com]

  Knockdown of BC1 RNAs’ expression can lead to remarkably increased neuronal excitability and epilepsy (Zhong et al., 2009). The BC1 RNA can also play a role as an adaptor molecule to connect several mRNAs with FMRP (Zalfa et al., 2005). [frontiersin.org]

  The following complications were noted: liquor leakage (27%), SIADH (15%), pneumonia (12%), epilepsy (8%), meningitis (4%), hypoxic injury (4%), pseudomeningocele (4%), oronasal fistula (4%), partial flap necrosis (4%), and abscesses (4%). [journals.lww.com]

• Inguinal Hernia

  hernia, cryptorchidism, pectus carinatum. [yumpu.com]

• Swelling

  Fundoscopy showed no abnormalities in 3 patients, progressive bilateral swelling in 3, and unilateral swelling in 2 patients. Vision worsened in 1, improved in 4, and fluctuated in 2 patients, preoperatively. [journals.lww.com]

• Myopathy

  Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO [mseqdr.org]

  Ben Ari Shuper Mimouni syndrome [24] Benallegue Lacete syndrome [25] Bencze syndrome [26] Benign autosomal dominant myopathy Benign familial infantile convulsions BFIC [[27]], [28], [29], [30] Benign lymphoma [31] Benign recurrent vertigo Bentham Driessen [en.wikipedia.org]

  […] abscess, Cerebellar abscess, Chickenpox, Diphtheria, Encephalitis, HIV infection, Measles, Quaternary syphilis, Ramsay-Hunt syndrome, Smallpox, Tabes dorsalis Musculoskeletal / Ortho Dinno-Shearer-Weisskopf syndrome, Furukawa-Takagi-Nakao syndrome, Myopathy [wikidoc.org]

  745-54 Nesin, V., Wiley, G., Kousi, M., Ong, E.C., Lehmann, T., Nicholl, D.J., Suri, M., Shahrizaila, N., Katsanis, N., Gaffney, P.M., Wierenga, K.J., Tsiokas, L. (2014) Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy [zfin.org]

• Small Head

  The fifth metatarsal is prominent with callus formation under the small head of the fifth and third metatarsal bones.364 Knees and Hips Upton364 finds no functional deformities of the knee and hip in 19 patients. [journals.lww.com]

• Strabismus

  The authors report a 6-year-old boy <strong>with</strong> PMM2-CDG who presented <strong>with</strong> mild mental retardation, microcephaly, facial dysmorphysm, concomitant convergent strabismus, pseudobulbar, cerebellar <strong>and</strong> epileptic [yumpu.com]

  It presents clinically as growth and mental retardation, brachycephaly [1] (an unusually enlarged nose), macrocephaly (an increase in the space between the palpebral fissures) [4], and a range of ocular signs and symptoms such as myopia, nystagmus, strabismus [ncbi.nlm.nih.gov]

  The most frequent abnormality found 12 months postoperatively was strabismus in patients with unicoronal craniosynostosis. [journals.lww.com]

• Esotropia

  [52] Blaichman syndrome [53] Blepharo cheilo dontic syndrome aka BCD syndrome, Blepharocheilodontic syndrome Elschnig syndrome [54], [55] Blepharo facio skeletal syndrome [56] Blepharophimosis nasal groove growth retardation Blepharophimosis ptosis esotropia [en.wikipedia.org]

  TABLE 15: Prevalence of Strabismus Presented as Percentage (Esotropia/Exotropia) TABLE 16: Prevalence of Astigmatism (>1D) Presented as Percentage (Right Eye/Left Eye) Conclusions Table: No title available. [journals.lww.com]

• Prolapse

  Considering that a number of people suffering from FXS have cardiac dysfunctions, such as prolapse of mitral valve and aortic root dilation, FMR4 which expresses highly in heart may have a functional role to play in the relevant pathogenic mechanism [frontiersin.org]

• Blepharoptosis

  […] aortic anomaly [59] (Main article is in Ptosis (eyelid) Blepharoptosis cleft palate ectrodactyly dental anomalies [60] Blepharoptosis myopia ectopia lentis [61] [62] Blethen Wenick Hawkins syndrome [63] Blomstrand syndrome - Is it referring to Blomstrand [en.wikipedia.org]

• Cryptorchidism

  </strong> PMM2-CDG who presented <strong>with</strong> mild mental retardation, microcephaly, facial dysmorphysm, concomitant convergent strabismus, pseudobulbar, cerebellar <strong>and</strong> epileptic syndrome, inverted nipples, inguinal hernia, cryptorchidism [yumpu.com]

• Hypoglycemia

  S5 Article You have access PDF HTML Export citation White matter changes in hypoglycemia B AlYamany, M Alturkustani, LC Ang Published online by Cambridge University Press: 30 January 2017, p. [cambridge.org]

  However, neither neonatal hypoglycemia nor asymmetric extremities was found. Neonatal abdominal ultrasonography revealed normal size of kidney and liver without intraabdominal tumor. [mdpi.com]

Sikorski CW, Curry DJ: Endoscopic, single-catheter treatment of Dandy-Walker syndrome hydrocephalus: technical case report and review of treatment options. Pediatr Neurosurg 2005;41:264–268. [karger.com]

Early treatment of the complex syndactyly improves this situation. Therefore, either prevention or treatment of paronychia is an additional reason to commence with early treatment of the hand deformity. [journals.lww.com]

Because there is no definite cure for DWS and we can only treat the underlying symptoms, the patient's family was offered surgical treatment for buphthalmos but rejected and chose not to pursue treatment. [ncbi.nlm.nih.gov]

Differentiating Ataxia from other Diseases Epidemiology and Demographics Risk Factors Natural History, Complications and Prognosis Diagnosis History and Symptoms Physical Examination Laboratory Findings X Ray CT MRI Other Imaging Findings Other Diagnostic Studies Treatment [wikidoc.org]

However, treatments are currently available for some of the symptoms of BWS, and BWS features may become unapparent with age, making BWS not always a terrible condition [2,74]. [mdpi.com]

Klein O, Pierre-Kahn A, Boddaert N, Parisot D, Brunelle F: Dandy-Walker malformation: prenatal diagnosis and prognosis. Childs Nerv Syst 2003;19:484–489. [karger.com]

Jump to navigation Jump to search Ataxia Microchapters Home Patient Information Overview Classification Pathophysiology Causes Differentiating Ataxia from other Diseases Epidemiology and Demographics Risk Factors Natural History, Complications and Prognosis [wikidoc.org]

Long non-coding RNA NEAT1 overexpression is associated with unfavorable prognosis in patients with hepatocellular carcinoma after hepatectomy: a Chinese population-based study. Eur. J. Surg. [frontiersin.org]

For the attending physician it is important to know if there are any associated anomalies (to be expected) next to the craniosynostosis that may be of influence to the treatment plan and the prognosis of the child. [journals.lww.com]

Dandy-Walker malformation: Etiologic heterogeneity and empiric recurrence risks. Clin Genet. 1985;28:272–283. [PubMed] [Google Scholar] Articles from Radiology Case Reports are provided here courtesy of Elsevier [ncbi.nlm.nih.gov]

Murray C, Johnson JA, Bird TD: Dandy-Walker malformation: etiologic heterogeneity and empiric recurrence risks. Clin Genet 1985;28:272–283. Osenbach RK, Menezes AH: Diagnosis and treatment of the Dandy-Walker malformation: 30 years of experience. [karger.com]

Molecular etiology of Beckwith–Wiedemann syndrome (BWS). Schematic representation of the two neighboring imprinted domains at human chromosome 11p15.4p15.5, namely imprinting control region 1 (ICR1) and ICR2, related to BWS. [mdpi.com]

Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI). J. Neurodev. [frontiersin.org]

Genetic Diagnostics Etiologic diagnostics and genetic counseling is the task of the clinical geneticist. [journals.lww.com]

Jump to navigation Jump to search Ataxia Microchapters Home Patient Information Overview Classification Pathophysiology Causes Differentiating Ataxia from other Diseases Epidemiology and Demographics Risk Factors Natural History, Complications and Prognosis [wikidoc.org]

The changing epidemiologic spectrum of single-suture synostosis. Plast Reconstr Surg 2008; 122:527–533. 12. Van der Meulen J, van der Hulst R, van Adrichem L, et al. The increase of metopic synostosis: a pan-European observation. [journals.lww.com]

Paper Details Title The fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiology DOI Published Date 29 Jun, 2016 Journal Volume 30 Issue 6 Pages 815 - 833 [scinapse.io]

Jump to navigation Jump to search Ataxia Microchapters Home Patient Information Overview Classification Pathophysiology Causes Differentiating Ataxia from other Diseases Epidemiology and Demographics Risk Factors Natural History, Complications and Prognosis [wikidoc.org]

The paternal ICR1 is imprinted by methylation that prevents H19 activation but permits IGF2 expression. In contrast, the maternal ICR1 is unmethylated and allows H19 activation but silences IGF2 expression (Figure 1). [mdpi.com]

Destruction of meningeal cells over the newborn hamster cerebellum with 6-hydroxydopamine prevents foliation and lamination in the rostral cerebellum. [jmg.bmj.com]

(C) Other interactions also play a role in preventing the targeted mRNAs being. [frontiersin.org]