The 5-year-old boy presents with dysmorphic facial features… Expand [semanticscholar.org]

Chumei Li, Marta Szybowska, Gina Cowing McMaster University Poster Presenter: Chumei Li No votes yet The Poster has not been submitted by the Author. 487 Unusual Neonatal Presentation of Noonan Spectrum Disorders Nadia Falah, Deborah Barbouth, Brocha [epostersonline.com]

Case presentation Here we present the first Chinese Han patient with a de novo nonsense variant (c.1357C > T, p.Gln453*) in PUF60 by clinical whole exome sequencing. [go.gale.com]

Once again, authoritative papers are presented here, beginning with a review by Rai and Black highlighting the salient features of mosquito genomes and their evolution. [books.google.de]

Case presentation Here we present the first Chinese Han patient with a de novo nonsense variant (c.1357C > T, p.Gln453*) in PUF60 by clinical whole exome sequencing. [bmcmedgenomics.biomedcentral.com]

• Short Stature

  Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature. [rug.nl]

  Recently, PUF60 (Poly-U Binding Splicing Factor 60 kDa), which encodes a component of the spliceosome, has been discussed as the best candidate gene for the Verheij syndrome phenotype, regarding the cardiac and short stature phenotype. [hal-univ-bourgogne.archives-ouvertes.fr]

  Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). [ncbi.nlm.nih.gov]

• Poor Feeding

  […] difficulties IEA IEA OMIM-CS:ABDOMEN_GASTROINTESTINAL > POOR FEEDING OMIM:615583 HPO:skoehler 06.02.2014 +OMIM:615583 #615583 VERHEIJ SYNDROME; VRJS;;CHROMOSOME 8q24.3 DELETION SYNDROME HP:0001671 Abnormality of the cardiac septa IEA IEA OMIM-CS:CARDIOVASCULAR_HEART [sourceforge.net]

  […] difficulties Feeding problems Poor feeding [ more ] 0011968 Global developmental delay 0001263 Hemivertebrae Missing part of vertebrae 0002937 Hip dislocation Dislocated hips Dislocation of hip [ more ] 0002827 Long philtrum 0000343 Microcephaly Abnormally [rarediseases.info.nih.gov]

  He had a significant history of poor feeding and failure of thrive as an infant. At the age of 4 years and 7 months, his weight was 13.5 kg (< 2 SD) and his height was 98 cm (< 2 SD). His head circumference was 49.5 cm (< 1 SD). [go.gale.com]

  He had a significant history of poor feeding and failure of thrive as an infant. At the age of 4 years and 7 months, his weight was 13.5 kg (< 2 SD) and his height was 98 cm (< 2 SD). His head circumference was 49.5 cm (< 1 SD). [bmcmedgenomics.biomedcentral.com]

• Dentist

  This book will be an invaluable resource for physicians, dentists, and other health professionals and for basic scientists interested in developmental processes and genetic perturbations that affect them. [books.google.de]

• Chronic Diarrhea

  The presentation of chronic diarrhea in our patient has not been previously reported [1, 2, 4-9]. It will be interesting to see if diarrhea is a feature of other patients harboring a PUF60 defect. [go.gale.com]

  The presentation of chronic diarrhea in our patient has not been previously reported [1, 2, 4,5,6,7,8,9]. It will be interesting to see if diarrhea is a feature of other patients harboring a PUF60 defect. [bmcmedgenomics.biomedcentral.com]

• Almond-Shaped Eyes

  Upon the physical examination at AGE, a distinct facial dimorphism was noted and these include a short neck, thin upper lip, long philtrum, wide nasal bridge, micrognathia, and almond-shaped eyes and short palpebral fissures (Fig. 1). [go.gale.com]

• Hip Dislocation

  [from ORDO] Show allHide all Abnormality of head or neck Long philtrum Microcephaly Narrow forehead Short neck Short nose Thin upper lip vermilion Wide nasal bridge Abnormality of limbs Clinodactyly Hip dislocation Short 5th finger Abnormality of the [ncbi.nlm.nih.gov]

  dislocation Short 5th finger Abnormality of the abdomen ... ... [familydiagnosis.com]

  dislocation IEA IEA OMIM-CS:SKELETAL_PELVIS > HIP DISLOCATION OMIM:615583 HPO:skoehler 06.02.2014 +OMIM:615583 #615583 VERHEIJ SYNDROME; VRJS;;CHROMOSOME 8q24.3 DELETION SYNDROME HP:0002948 Vertebral fusion IEA IEA OMIM-CS:SKELETAL_SPINE > FUSED VERTEBRAE [sourceforge.net]

• Short Fifth Finger

  5th finger Short fifth finger Short fifth fingers Short little finger Short pinkie finger Short pinky finger [ more ] 0009237 Short neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short stature [rarediseases.info.nih.gov]

  5th finger IEA IEA OMIM-CS:SKELETAL_HANDS > SHORT FIFTH FINGERS OMIM:615583 HPO:skoehler 06.02.2014 +OMIM:615583 #615583 VERHEIJ SYNDROME; VRJS;;CHROMOSOME 8q24.3 DELETION SYNDROME HP:0002827 Hip dislocation IEA IEA OMIM-CS:SKELETAL_PELVIS > HIP DISLOCATION [sourceforge.net]

  Skeletal features included slight shortening of the trunk, significant flattening of the chest, pectus excavatum, scoliosis, valgus deformity of the feet, long fingers and toes, overlying proximal thumbs, short fifth fingers with clinodactyly on the right [nature.com]

• Psychomotor Retardation

  It is difficult to discriminate Verheij syndrome from Noonan syndrome, both have clinical manifestations such as severe growth retardation, psychomotor retardation, and congenital heart disease. [unboundmedicine.com]

  An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions. Eur J Med Genet. September-October 2009; 52(5):353-357. [rarediseases.info.nih.gov]

  An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions. Eur J Med Genet. 2009;52(5):353–7. CAS Article Google Scholar 2. [bmcmedgenomics.biomedcentral.com]

  Verheij JBGM, de Munnik SA, Dijkhuizen T et al : An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions. [nature.com]

• Short Neck

  [from ORDO] Show allHide all Abnormality of head or neck Long philtrum Microcephaly Narrow forehead Short neck Short nose Thin upper lip vermilion Wide nasal bridge Abnormality of limbs Clinodactyly Hip dislocation Short 5th finger Abnormality of the [ncbi.nlm.nih.gov]

  Affiliated tissues include kidney and heart, and related phenotypes are short neck and clinodactyly OMIM : 57 Verheij syndrome (VRJS) is characterized by growth retardation, delayed psychomotor development, dysmorphic facial features, and skeletal, mainly [malacards.org]

  neck IEA IEA OMIM-CS:HEAD AND NECK_NECK > SHORT NECK OMIM:615583 HPO:skoehler 06.02.2014 +OMIM:615583 #615583 VERHEIJ SYNDROME; VRJS;;CHROMOSOME 8q24.3 DELETION SYNDROME HP:0000431 Wide nasal bridge IEA IEA OMIM-CS:HEAD AND NECK_NOSE > BROAD NASAL ROOT [sourceforge.net]

  Upon the physical examination at AGE, a distinct facial dimorphism was noted and these include a short neck, thin upper lip, long philtrum, wide nasal bridge, micrognathia, and almond-shaped eyes and short palpebral fissures (Fig. 1). [go.gale.com]

• Short Nose

  [from ORDO] Show allHide all Abnormality of head or neck Long philtrum Microcephaly Narrow forehead Short neck Short nose Thin upper lip vermilion Wide nasal bridge Abnormality of limbs Clinodactyly Hip dislocation Short 5th finger Abnormality of the [ncbi.nlm.nih.gov]

  Symptoms of Verheij syndrome Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Congenital ocular coloboma Long philtrum Microcephaly Narrow forehead Short nose Thin upper lip vermilion Abnormality of limbs Clinodactyly [familydiagnosis.com]

  OMIM:615583 HPO:skoehler 06.02.2014 +OMIM:615583 #615583 VERHEIJ SYNDROME; VRJS;;CHROMOSOME 8q24.3 DELETION SYNDROME HP:0003196 Short nose IEA IEA OMIM-CS:HEAD AND NECK_NOSE > SHORT NOSE OMIM:615583 HPO:skoehler 06.02.2014 +OMIM:615583 #615583 VERHEIJ [sourceforge.net]

• Narrow Forehead

  [from ORDO] Show allHide all Abnormality of head or neck Long philtrum Microcephaly Narrow forehead Short neck Short nose Thin upper lip vermilion Wide nasal bridge Abnormality of limbs Clinodactyly Hip dislocation Short 5th finger Abnormality of the [ncbi.nlm.nih.gov]

  Symptoms of Verheij syndrome Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Congenital ocular coloboma Long philtrum Microcephaly Narrow forehead Short nose Thin upper lip vermilion Abnormality of limbs Clinodactyly [familydiagnosis.com]

  forehead IEA IEA OMIM-CS:HEAD AND NECK_FACE > BITEMPORAL NARROWING OMIM:615583 HPO:skoehler 06.02.2014 +OMIM:615583 #615583 VERHEIJ SYNDROME; VRJS;;CHROMOSOME 8q24.3 DELETION SYNDROME HP:0000343 Long philtrum IEA IEA OMIM-CS:HEAD AND NECK_FACE > LONG [sourceforge.net]

• Bulbous Nose

  nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short, broad neck). [ncbi.nlm.nih.gov]

  Poor speech Wide nose Gastroesophageal reflux Pica Malignant hyperthermia Delayed speech and language development Hypertonia Cataract Congenital onset Sensorineural hearing impairment Constipation Abnormal facial shape Short nose Bulbous nose Smooth [mendelian.co]

• Thin Lips

  [from ORDO] Show allHide all Abnormality of head or neck Long philtrum Microcephaly Narrow forehead Short neck Short nose Thin upper lip vermilion Wide nasal bridge Abnormality of limbs Clinodactyly Hip dislocation Short 5th finger Abnormality of the [ncbi.nlm.nih.gov]

• Absent Kidney

  kidney Missing kidney [ more ] 0000104 Renal cyst Kidney cyst 0000107 Renal hypoplasia Small kidneys Underdeveloped kidneys [ more ] 0000089 Scoliosis Abnormal curving of the spine 0002650 Short 5th finger Short fifth finger Short fifth fingers Short [rarediseases.info.nih.gov]

• Global Developmental Delay

  developmental delay Microcephaly Growth abnormality Growth delay Short stature IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. [ncbi.nlm.nih.gov]

  Affiliated tissues include kidney, eye and brain, and related phenotypes are intellectual disability and global developmental delay OMIM® : 57 Verheij syndrome is characterized by growth retardation, delayed psychomotor development, dysmorphic facial [malacards.org]

  Some patients may be asymptomatic, whereas others show global developmental delay, nonspecific dysmorphic features, and delayed myelination on brain imaging. [mendelian.co]

• Small Kidney

  Renal cyst Kidney cyst 0000107 Renal hypoplasia Small kidneys Underdeveloped kidneys [ more ] 0000089 Scoliosis Abnormal curving of the spine 0002650 Short 5th finger Short fifth finger Short fifth fingers Short little finger Short pinkie finger Short [rarediseases.info.nih.gov]

  kidney(s) (kidney volume below two standard deviations of that of age-matched normal individuals or a combined kidney volume of less than half of what is normal for the patient's age) with normal corticomedullary differentiation and reduced number of [ncbi.nlm.nih.gov]

Fluoxetine in the treatment of premenstrual dysphoria. New Engl J Med 1995, vol.332, 1529-1534. Stone AB, Pearlstein TB, Brown WA. Fluoxetine in the Treatment of Late Luteal Phase Dysphoric Disorder. J Clin Psychiatry 1991;52:290-293. [jpsychopathol.it]

The treatment phase:dose escalation of Olaparib will be performed in cohorts of 3 subjects. [clinicaltrials.gov]

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]

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]

When the scalp and/or cranial bone defects are severe, early surgical intervention with grafting is indicated. [ citation needed ] Prognosis [ edit ] The overall prognosis is excellent in most cases. [en.wikipedia.org]

Generally, the prognosis of Henoch-Schonlein purpura [DS:H01584] ... [kegg.jp]

The authors present such a case of long segment aganglionosis in a 4-day-old male with Waardenburg-Shah syndrome and discuss diagnosis, treatment, and prognosis. [panafrican-med-journal.com]

Prognosis Children with Waardenburg syndrome have a normal life expectancy. [emedicine.medscape.com]

ETIOLOGY No definite etiology is identified in more than half of the patients with INCPH [ 46 ]. [jpatholtm.org]

Congenital malformation H01795 Blepharophimosis-mental retardation syndrome Ohdo syndrome Blepharophimosis-mental retardation syndromes (BMRS) include a group of clinically and etiologically heterogeneous conditions, which can occur as isolated features [kegg.jp]

Etiology Waardenburg syndrome is a rare disease with an autosomal dominant mode of inheritance. [emedicine.medscape.com]

Driscoll DA, Budarf ML, Emanuel BS (1992) A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet 50(5):924–933 PubMed PubMedCentral 4. [springermedizin.de]

[…] spectrum disorders including major behavioral and cognitive syndromology, common co-morbid conditions, neuropathology, neuroimmunology, and other neurological correlates such as seizures, allergy and immunology, gastroenterology, infectious disease, and epidemiology [books.google.de]

The overall aim of this thesis was to study epidemiology and risk factors to optimize patient selection and techniques for surgical treatment of PA. [mdruppsala.se]

No epidemiological data are available in Colombia. [scielo.org.co]

FMR1 and the fragile X syndrome: human genome epidemiology review. Genet Med. 2001 Sep-Oct;3(5):359-71. (2.) Coffee B, Keith K, Albizua I, Malone T, Mowrey J, Sherman SL, et al. [aprendeenlinea.udea.edu.co]

The pathophysiology of this syndrome requires depletion of stem cell clonogens (SCCs) within the crypts of Lieberkühn, which are a subset of cells necessary for postinjury regeneration of gut epithelium. [jci.org]

Environmental [ edit ] Currently, no environmental factors are known to increase the likelihood of HLS development or progression; HLS is caused only by genetic abnormalities. [5] Pathophysiology [ edit ] The pathophysiology of HLS is abnormal cilia development [en.wikipedia.org]

Pathophysiology Waardenburg syndrome is a rare disease with an autosomal dominant mode of inheritance. [emedicine.medscape.com]

This article gives an overview of the pathophysiology, the current study and research situation as well as the possible different approaches to the therapeutic influence of PCSK9 in the future. © 2016 S. [karger.com]

Moreover, we report the generation of 2A2, an anti-ceramide monoclonal antibody that binds to ceramide to prevent platform formation on the surface of irradiated endothelial cells of the murine GI tract. [jci.org]

Evidence of an advantage of a combined application of statins and nicotinic acid in preventing cardiovascular events over statin monotherapy is not compelling [ 6 ]. [karger.com]

We can explain the discordance of mental capacity between the twin sisters by the fact that the number of FMRP expressing neurones in the brain of the affected sister is insufficient to prevent mental retardation. [jmg.bmj.com]

[…] mutation in the fibrilin-1 gene ( FBN1 ) in association with aortic root dilatation. 1 Of the more than 1800 mutations identified, most are specific to a single family, and 25% are de novo mutations; high intrafamiliar and interfamiliar variation has prevented [revespcardiol.org]

Correspondence ABSTRACT Introduction: The high prevalence of metabolic syndrome (MS) in Spain requires additional efforts for prevention and treatment. [scielo.isciii.es]