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Braddock-Carey Syndrome

Thrombocytopenia-Robin Sequence Syndrome


Presentation

  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • The similarity of the reported cases with deletions involving 21q22 with the clinical presentation of the two patients with Braddock-Carey syndrome resulted in a reinvestigation of the genetic etiology of these two patients 20 years after the original[ncbi.nlm.nih.gov]
  • Constitutional RUNX1 deletion presenting as non-syndromicthrombocytopenia with myelodysplasia: 21q22 ITSN1 as a candidategene in mental retardation.[docslide.com.br]
  • presented conductive loss (bilaterally) with levels mild to severe and 3% (n 1) presented a unilateral deep type of sensorioneural loss.[oldfiles.bjorl.org]
  • Our patient presented most of the characteristics initially described by Say et al . (1975), though cystic renal dysplasia was not observed.[scielo.br]
Developmental Delay
  • In addition, several reports of thrombocytopenia and developmental delay have been documented in association with deletions in the Down syndrome critical region at 21q22.[ncbi.nlm.nih.gov]
  • In addition, several reports of thrombocytopenia and developmental delay have been documented in… CONTINUE READING[semanticscholar.org]
  • In addition, several reports of RUNX1. thrombocytopenia and developmental delay have been docu- Am J Med Genet Part A 170A:2580–2586. mented in American Journal of Medical Genetics Wiley[deepdyve.com]
Multiple Congenital Anomalies
  • A recent study of exome analyses in 109 patients with undiagnosed diseases included a 5-year-old girl with intellectual disability and multiple congenital anomalies, who had an apparently de novo frameshift mutation in SON.[ncbi.nlm.nih.gov]
  • Resumo A recent study of exome analyses in 109 patients with undiagnosed diseases included a 5-year-old girl with intellectual disability and multiple congenital anomalies, who had an apparently de novo frameshift mutation in SON.[search.bvsalud.org]
  • congenital anomalies, caused by chromosomal microdeletion in 21q22 including the RUNX1 gene. * [22618] The statements on this Web site have not been evaluated by the Food and Drug Administration (FDA).[wellnessadvocate.com]
  • Multiple congenital anomalies syndrome: Growth and mental retardation, microcephaly, preauricular skin tags, cleft palate, camptodactyly, and distal limb anomalies.[eurekamag.com]
  • congenital anomalies. the syn- drome is associated with deletion of chromosome 17 patient with large 17p11.2 deletion presenting with smith-magenis syndrome and joubert syndrome phenotype f. natacci,1 l. corrado,1 m. pierri,2 m. rossetti,2 c. zuccarini[vdocuments.site]
Down Syndrome
  • In addition, several reports of thrombocytopenia and developmental delay have been documented in association with deletions in the Down syndrome critical region at 21q22.[ncbi.nlm.nih.gov]
  • Synapto-janin 1-linked phosphoinositide dyshomeostasis and cognitive decits inmouse models of Downs syndrome.[docslide.com.br]
  • […] and research topics related to Down syndrome.[healthdocbox.com]
  • January 01, 2018 Parental education accounts for variability in the IQs of probands with Down syndrome: A longitudinal study.[medscape.com]
  • Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies. Am J Hum Genet 2015 May 9;96(5):816-25. Epub 2015 Apr 9.[pubfacts.com]
Respiratory Distress
  • Further evalu-ation of respiratory distress revealed signs suggestive of chroniclung disease and pulmonary hypertension. CT scan of the chestrevealed ndings of chronic lung disease including areas of airtrapping with a pattern of mosaic perfusion.[docslide.com.br]
  • Due to respiratory distress she was treated with NCPAP (nasal continuous positive airway pressure) for a total of 13 days. She appeared “puffy” and with thick subcutaneous tissue resembling diabetic foetopathy, but with normal circulation.[molecularcytogenetics.biomedcentral.com]
Heart Disease
  • Here we report an additional male with intellectual disability, congenital heart disease, distinctive facial features with curly hair and protruding ears, and long slender extremities, and hyperextensible joints.[ncbi.nlm.nih.gov]
  • Therefore, her karyotype was assigned as 46, XX.arr snp 21q22.11 (32,273,18934,168,705)x1 dn (hg18).DISCUSSIONHere, we describe an infant with facial dysmorphisms, PRS,congenital heart disease and hypotonia caused by a microdeletionin 21q22.11.[docslide.com.br]
  • disease, blepharophimosis, blepharoptosis and hypoplastic teeth Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Morquio syndrome Multiple malformation syndrome with senile-like appearance Multiple[icdlist.com]
  • Their phenotype included intellectual disability/developmental delay, growth retardation, microcephaly, congenital heart disease, and renal malformations.[kexuehome.com]
Hyperextensible Joints
  • Here we report an additional male with intellectual disability, congenital heart disease, distinctive facial features with curly hair and protruding ears, and long slender extremities, and hyperextensible joints.[ncbi.nlm.nih.gov]
Hearing Impairment
  • Auditory brainstem responses and usefulness of hearing aids in hearing impaired children with Cornelia de Lange syndrome. Int J Pediatr Otorhinolaryngol 2002 21; 66(1):63-9. Toker AS, Ay S, Yeler H, Sezgin I.[archhealthinvestigation.com.br]
Alopecia
  • […] backwardness hernia Branchio oculo facial syndrome Branchio-otic, syndrome Branchio-Oto-renal, syndrome Branchio squeletto genital syndrome Braun Bayer syndrome of Attach poplitée syndrome of Attach poplitée syndrome forms lethal Brocq, cicatricial alopecia[wikipedia.qwika.com]
  • […] glomerulonephritis, type 3 Holoacardius Holoacardius acephalus Holoacardius acormus Holoacardius amorphus Holt-Oram syndrome Homologous chimera Hyperhidrosis, premature cavities and premolar aplasia Hyperthermia-induced defect Hypogonadism, diabetes mellitus, alopecia[icd9data.com]
Sparse Eyebrows
  • In ourproposita, aside from micrognathia and U-shaped cleft palate,facial features included low anterior hairline, sparse eyebrows,downslanted palpebral ssures, broad nasal bridge, and upturnednose.[docslide.com.br]
Pierre Robin Syndrome
  • ) Robin syndrome or sequence.[readbyqxmd.com]
  • Source MeSH Agenesis of Corpus Callosum Alleles Child, Preschool DNA Mutational Analysis Facies Female Gene Frequency Genetic Association Studies Genotype Growth Disorders Humans Kinesin Mutation Pedigree Phenotype Pierre Robin Syndrome Saudi Arabia Thrombocytopenia[unboundmedicine.com]
  • Pierre Robin Syndrome : A syndrome with multiple etiologies resulting from mandibular aplasia. Characterized by the association of cleft palate, glossoptosis, and micrognathia.[accessanesthesiology.mhmedical.com]
  • The Pierre Robin syndrome: Etiology and early treat-ment.[docslide.com.br]
Broad Nasal Bridge
  • In ourproposita, aside from micrognathia and U-shaped cleft palate,facial features included low anterior hairline, sparse eyebrows,downslanted palpebral ssures, broad nasal bridge, and upturnednose.[docslide.com.br]
Dystonia
  • […] syndrome Costello syndrome Craniofacial deafness hand syndrome Craniofacial ulnar renal syndrome Crisponi syndrome Currarino triad Cutis laxa-corneal clouding-oligophrenia syndrome de Barsy syndrome Delayed bone age Developmental malformation, deafness, dystonia[icdlist.com]
  • Adult-onset dystonia with marfanoid features. Neurol Clin Pract . 2017;7 (4): e31-e34.[pediatrics.wustl.edu]
Neonate-Onset
  • The primary features included Pierre Robin sequence, persistent neonatal-onset thrombocytopenia, agenesis of the corpus callosum, a distinctive facies, enamel hypoplasia, and severe developmental delay.[ncbi.nlm.nih.gov]

Workup

  • October 2018: Journal of Craniofacial Surgery # 23 Artur Fahradyan, Beina Azadgoli, Michaela Tsuha, Mark M Urata, Stacey H Francis OBJECTIVE: The workup of patients with Pierre Robin sequence (PRS) consists of a physical examination, O2 saturation, and[readbyqxmd.com]

Treatment

  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines.[orpha.net]
  • Patients with relapsed germinoma were salvaged both with SDC and re-irradiation or HDC AuSCR with/without re-irradiation; both represent valid treatment options.[encore.seals.ac.za]
  • We aimed to determine the place of DMARDs and biologic-targeted treatments.[readbyqxmd.com]

Prognosis

  • Am J Med Genet A (2016) 0.77 Prognosis of critical limb ischemia: Major vs. minor amputation comparison. Wound Repair Regen (2015) 0.76 Management of chronic expanding haematoma using triamcinolone after latissimus dorsi flap harvesting.[pubrank.carbocation.com]
  • The prognosis for patients with the mild form of Cornelia de Lange syndrome (CDLS) is much better than that for patients with the classic form.[emedicine.medscape.com]
  • However, considerable clinical variability was apparent and no clear genotype–phenotype correlations could be drawn that would help predict clinical prognosis in a newly-diagnosed young proband.[jmg.bmj.com]

Etiology

  • This investigation provides evidence that the etiology of this and other "Fanconi-like" disorders represent a newly recognized contiguous gene deletion syndrome involving 21q22 and specifically, the RUNX1 gene. 2016 Wiley Periodicals, Inc.[ncbi.nlm.nih.gov]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Abstract: The Goldenhar's syndrome is a rare congenital anomaly, of which the etiology is yet unknown, and characterized by a classical triad of ocular, auricular and vertebral abnormalities.[oldfiles.bjorl.org]
  • Etiology and clinical presentation of birth defects: population based study. BMJ. 2017;357:j2249. PubMed abstract / Full Text Carey JC. Much ado about something 2: Reflections on the state of the American Journal of Medical Genetics 2016.[medicalhomeportal.org]
  • Pierre Robin Syndrome : A syndrome with multiple etiologies resulting from mandibular aplasia. Characterized by the association of cleft palate, glossoptosis, and micrognathia.[accessanesthesiology.mhmedical.com]

Epidemiology

  • COMMUNICATION OF DIFFICULT NEWS TO PARENTS - A PROTOCOL BASED ON PARENT PREFERENCE Journal of investigative medicine ROBERTSON J; FELDKAMP M; JENNINGS J; LEENMITCHELL M; MARTINEZ L; CAREY JC MATERNAL ALCOHOL AND CAFFEINE CONSUMPTION AND SPONTANEOUS-ABORTION Epidemiology[serials.unibo.it]
  • Descriptive epidemiology of Cornelia de Lange syndrome in Europe. Am J Med Genet A . 2008 Jan 1. 146A(1):51-9. [Medline] . Greenberg F, Robinson LK. Mild Brachmann-de Lange syndrome: changes of phenotype with age.[emedicine.medscape.com]
  • Epidemiological data highlight incidence, severity and mortality of PRS; pathophysiological mechanism reports the etiology and pathogenesis of the disease distinguishing between isolated and syndromic form...[readbyqxmd.com]
Sex distribution
Age distribution

Pathophysiology

  • Epidemiological data highlight incidence, severity and mortality of PRS; pathophysiological mechanism reports the etiology and pathogenesis of the disease distinguishing between isolated and syndromic form...[readbyqxmd.com]
  • PC MRI emanate measurement studies have also contributed to get wind of venous contributions to the pathophysiology of communicating and sane pressure hydrocephalus [110112], or hydrocephalus associated with malformative syndromes like achondroplasia[cardinalpub.com]
  • Pathophysiology of the neurovascular portion: malady grounds or consequence? J. Cereb.[sarcomacancer.org]
  • Pathophysiology Mutations in 5 genes, SCC2/NIPBL , SMC1A or SMC3 , RAD21 , and HDAC8 , coding protein components of the cohesion pathway, cause approximately 65% of Cornelia de Lange syndrome (CDLS) cases.[emedicine.medscape.com]

Prevention

  • And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • Join now to see the full profile Press Mentions OTIS Awarded 6M in Federal Funding to Help Prevent Birth Defects August 15, 2017 Hospital Affiliations SSM Health Saint Louis University Hospital Saint Louis , Missouri SSM Health St.[doximity.com]
  • In conclusion, preventive revisions starting in infancy and coordination with the pediatrician are necessary.[jdrntruhs.org]
  • My son had major heart defects that prevented the efficient oxygenation of his blood, resulting in pulmonary hypertension and severe apnea episodes during which he would stop breathing.[lifenews.com]
  • Del (9p) syndrome: Proposed behavior phenotype AMERICAN JOURNAL OF MEDICAL GENETICS Klebanoff, MA; Carey, JC; Hauth, JC; Hillier, SL; Nugent, RP; Thom, EA; Ernest, JM; Heine, RP; Wapner, RJ; Trout, W; Moawad, A; Leveno, KJ Failure of metronidazole to prevent[serials.unibo.it]

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