We present detailed phenotypic descriptions and neuroimaging on 36 patients analyzed by our group and six cases from the literature with a molecularly proven actinopathy (9 ACTG1 and 33 ACTB). [research.rug.nl]

Patient 2 presented with a bilateral cleft lip and cleft palate. [ncbi.nlm.nih.gov]

Six additional individuals with a similar phenotype have been reported in the world literature. 2-6 Microphthalmos, microcornea, and brain malformations were added to the phenotypic spectrum of this syndrome in 1995 (Table 1). 5 We report a child who presented [squ.pure.elsevier.com]

MMA Henedy MJ Marafie SJ Abulhasan Abstract An Arab child is presented herein with a phenotype that fits the rare Baraitser–Winter syndrome. [ajol.info]

• Regurgitation

  Cardiac ultrasonog-raphy revealed patent ductus arteriosus, mitral-valveprolapse, mitral regurgitation, tricuspid-valve prolapse,and tricuspid regurgitation, and renal ultrasonographyT. [docslide.com.br]

• Hepatosplenomegaly

  A physical examination revealed theabsence of hepatosplenomegaly. [docslide.com.br]

• Macrostomia

  Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: defining the phenotype. [ncbi.nlm.nih.gov]

  Facial features are striking: arched eyebrows; proptosis, hypertelorism; downslanting palpebral fissures; broad nasal bridge; macrostomia and dysplastic, low-set ears. [doi.org]

  […] microlissencephaly Poirier, K; Martinovic, J; Laquerrière, A Severe forms of Baraitser‐Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations Di Donato, N; Rump, A; Koenig, R Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia [deepdyve.com]

  These include trigonocephaly, arched eyebrows, long palpebral fissures, hypertelorism, ptosis, short nose, anteverted nares, wide nasal tip, long philtrum, macrostomia, thin upper lip, and prominent lower lip. [preventiongenetics.com]

• Narrow Thorax

  At the age of 8, she presented with anterior pachygyria, trigonocephaly, a short and webbed neck and a narrow thorax with the hypoplasia of the thoracic and shoulder girdle muscles and funnel chest deformity. [ncbi.nlm.nih.gov]

• Duplicated Halluces

  halluces, genital anomalies, bilateral hydronephrosis and a duplication of the right collecting system. [ncbi.nlm.nih.gov]

• Hearing Impairment

  Roux, Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients, Scientific Reports, 10.1038/s41598-017-16846-9, 7, 1, (2017). [doi.org]

  impairment Rendtorff, ND; Zhu, M; Fagerheim, T A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26) Wijk, E; Krieger, E; Kemperman, MH Discovery and prioritization of somatic mutations in diffuse large B‐cell [deepdyve.com]

  impairment 0000407 Short neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short stature Decreased body height Small stature [ more ] 0004322 Trigonocephaly Triangular skull shape Wedge shaped skull [rarediseases.info.nih.gov]

  impairment, 10.1093/hmg/ddp249 Bryan Keith E., Rubenstein Peter A., Allele-specific Effects of Human Deafness γ-Actin Mutations (DFNA20/26) on the Actin/Cofilin Interaction, 10.1074/jbc.m109.015818 Nunoi H., Yamazaki T., Tsuchiya H., Kato S., Malech [dial.uclouvain.be]

  impairments cleft palate delayed psychomotor development with generally normal intelligence (20% risk of intellectual impairment) lymphatic abnormalities cerebrovascular anomalies Noonan syndrome patients are also at increased risk for hematologic abnormalities [invitae.com]

• Dysplastic Ears

  Facial features are striking: arched eyebrows; proptosis, hypertelorism; downslanting palpebral fissures; broad nasal bridge; macrostomia and dysplastic, low-set ears. [ncbi.nlm.nih.gov]

  Other common physical features include postnatal short stature, microcephaly, microphthalmia, coloboma (of iris, retina, or eyelid), dysplastic ears, short webbed neck, and pectus deformities. [preventiongenetics.com]

• Short Neck

  Her clinical features included a unilateral iris coloboma, ptosis, hypertelorism, epicanthic folds, broad nasal bridge, full cheeks, pointed chin, low set abnormal ears and short neck. [ajol.info]

  In addition, the phenotype includes dwarfism with short neck and heart malformations. [pediatricneurosciences.com]

  neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short stature Decreased body height Small stature [ more ] 0004322 Trigonocephaly Triangular skull shape Wedge shaped skull [ more ] 0000243 Wide [rarediseases.info.nih.gov]

  A thin layer oferintense white matter is interposed between 2 layers of graytter, indicating band heterotopia (arrowheads).deBaanassnoBaFIGshoshatrichypmame (OMIM # 163950) mental and growth retardation,hypertelorism, ptosis, short neck, and low posterior [documents.tips]

• Psychomotor Retardation

  Most of the patients had severe psychomotor retardation with or without epilepsy (16 of 24), whereas only 5 patients had normal development or a mild mental deficit. [jamanetwork.com]

Treatment Treatment Options: There is no known treatment but special education, hearing devices, and physical therapy may be helpful. [disorders.eyes.arizona.edu]

Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout. [books.google.com]

Treatment of manifestations: Treatment is symptomatic. Developmental delay requires specific support (speech therapy, physical therapy) adapted to the severity of the handicap. [ncbi.nlm.nih.gov]

Diagnosis and Prognosis: The diagnosis is most likely to be made by a pediatrician but other specialists such as neurologists, neurosurgeons, ophthalmologists, and ear, nose and throat physicians are likely to be consulted. [disorders.eyes.arizona.edu]

Large mouth Thin upper and thick lower vermilion Progressive prominence of distal phalanges Progressive prominence of inter-phalangeal joints Short metacarpals – metatarsals [2] Cause [ edit ] This condition occurs via mutations in the SMARCA2 gene [3] Prognosis [en.wikipedia.org]

Heart malformations and epileptic crises can worsen the poor prognosis. [pediatricneurosciences.com]

Prognosis The outcome is assessed on the extent and severity of the problems in the individual patient. Most individuals with NS are able to lead normal lives. [patient.info]

However, the exact etiology of BaWSremains unknown [4,5]. In our patient, BAC aCGHand G-banding chromosome analyses did not revealany abnormalities. [docslide.com.br]

Results We established an etiological diagnosis in 45 of 113 cases (40%). [jamanetwork.com]

ABSTRACT Exome sequence analysis can be instrumental in identifying the genetic etiology behind atypical disease. [doi.org]

This syndrome, of unknown etiology, is characterized by significantly widely spaced eyes. Some affected individuals may have undiagnosed BWCFF. Noonan syndrome. [ncbi.nlm.nih.gov]

Awareness of orbital, ocular and adnexal development and the migratory pattern of neural crest cells is useful for understanding the etiology of congenital orbital, eyelid and lacrimal anomalies. [reviewofophthalmology.com]

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]

Kulmala, S.M., Shabalova, I., Petrovichev, N., Kozachenko, V., Zakharova, T., Pajanidi, J., Podistov, J., Chemeris, G., Sozaeva, L., Lipova, E., Tsidaeva, I., Ivanchenko, O., Pshepurko, A., Zakharenko, S., Nerovjna, R., Kljukina, L., Erokhina, O. (2008) Epidemiological [scindeks.ceon.rs]

American journal of epidemiology 162 (4), 305-317, 2005 199 2005 Variation of human milk oligosaccharides in relation to milk groups and lactational periods S Thurl, M Munzert, J Henker, G Boehm, B Müller-Werner, J Jelinek, ... [scholar.google.es]

Epidemiology It is inherited in an autosomal dominant manner. [patient.info]

All pathogenic variants leading to BWCFF syndrome most probably have a gain-of-function effect; however, the exact pathophysiologic link between the pathogenic variants and the resulting phenotype is as yet unknown. [ncbi.nlm.nih.gov]

/Avoidable - 0% Emergent - ED Care Needed - Not Preventable/Avoidable - 0% Primary diagnosis of injury 0% Primary diagnosis of mental health problems 100% Primary diagnosis of substance abuse 0% Primary diagnosis of Alcohol 0% Unclassified 0% Developmental [medicbind.com]

Internationally recognized scientists and physicians at the Research Institute are advancing new discoveries in cancer, genetics, immunology, pathology, infectious disease, injury prevention and bioethics. [newswise.com]

For treatment, there is not any specific one, but anti-epileptic drugs can help to decrease seizures 'frequency, and GH could be used to improve the final stature and prevent insulin-resistance and metabolic syndrome in adulthood. [pediatricneurosciences.com]

This e-book provides real-life management situations that led to detrimental results; discusses missteps to prevent; experiences present management literature suitable to the situations; and gives management guidance, instruments, and self-development [resident-reader.ga]