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Baraitser-Winter Syndrome 1

Fryns-Aftimos Syndrome


Presentation

  • Axillary and popliteal pterygia may be present.[doi.org]
  • Patient 2 presented with a bilateral cleft lip and cleft palate.[ncbi.nlm.nih.gov]
  • 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).[experts.umn.edu]
Broad Thumb
  • Other malformations Pectus deformity Congenital heart defects (33%) Hydronephrosis (10%) Horseshoe or ectopic kidneys and renal duplication (10%) Broad thumbs and hallux Rarely, duplication of the hallux Growth Normal intrauterine growth; moderate short[ncbi.nlm.nih.gov]
  • Broad thumbs were sometimes mentioned, and duplication of the hallux was present in three CFF3 patients with ACTG mutation. We have few data on prenatal findings. Polyhydramnios and nuchal translucency were reported in some cases.[doi.org]
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]
  • ., Acrocallosal syndrome: Report of a Brazilian girl, 10.1002/ajmg.1320430606 Guion-Almeida Maria Leine, Richieri-Costa Antonio, Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural[dial.uclouvain.be]
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]
  • ., Acrocallosal syndrome: Report of a Brazilian girl, 10.1002/ajmg.1320430606 Guion-Almeida Maria Leine, Richieri-Costa Antonio, Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural[dial.uclouvain.be]
Hydrops Fetalis
  • Stay at the forefront of your field thanks to new and completely revised chapters covering topics such as: Principles and Practice l Immune and Non-immune Hydrops Fetalis l Amniotic Fluid Volume l Enhancing Safe Prescribing in the Neonatal Intensive Care[books.google.com]
  • BRWS may manifest prenatally with nuchal edema or even hydrops fetalis. It remains unknown, why and how an ACTB mutation leads to abnormal limb development.[ncbi.nlm.nih.gov]
Sloping Shoulders
  • Reduction of the upper limb girdle muscle bulk variably affects many patients, and contributes to the appearance of narrow, sloping shoulders ( Figure 4 ). This aspect is striking in patients B32 and B22, who had congenital arthrogryposis.[doi.org]
Trunk Shortness
  • Short neck/pterygium colli 1 5 0.17 20 11 0.65 Kyphosis/scoliosis 2 3 0.40 13 17 0.43 Pectus 1 3 0.25 14 12 0.54 Heart defect 1 4 0.20 11 20 0.35 Limbs Limited extension of knees/elbows NA NA 9 20 0.31 Duplicated hallux 0 9 0 3 30 0.09 CNS Pachygyria[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]
  • ., Moreno-Pelayo Miguel Ángel, In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment, 10.1093/hmg/ddp249 Bryan Keith E., Rubenstein Peter A., Allele-specific Effects of Human Deafness γ-Actin Mutations[dial.uclouvain.be]
  • 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]
Dysplastic Ears
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]
Short Neck
  • 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]
  • 0.81 Cleft lip/palate 1 8 0.16 7 22 0.24 Pointed chin 5 2 0.71 16 16 0.50 Retrognathia 2 4 0.33 15 18 0.45 Ears Abnormally shaped ears 6 1 0.86 24 10 0.71 Deafness 3 4 0.43 10 23 0.30 Prominent nasal root on profile 4 1 0.80 18 6 0.75 Neck and trunk Short[ncbi.nlm.nih.gov]

Treatment

  • 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 Treatment Options: No specific treatment is available. References Article Title: New ocular finding in Baraitser-Winter syndrome Rall N, Leon A, Gomez R, Daroca J, Lacassie Y. New ocular finding in Baraitser-Winter syndrome .[disorders.eyes.arizona.edu]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]

Prognosis

  • 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]
  • 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]

Etiology

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

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]
  • ., Erokhina, O. (2008) Epidemiological, clinical and viral determinants of the increased prevalence of high-risk human papillomavirus (HPV) infections in elderly women. European journal of gynaecological oncology / Eur. J. Gynaecol.[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]
Sex distribution
Age distribution

Pathophysiology

  • 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]

Prevention

  • 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]

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