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]

Here we present a Turkish patient with Verheij syndrome who has typical facial dysmorphic features and renal and cardiac abnormalities, scoliosis, tethered cord, and mild intellectual disability. [tandfonline.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. [bmcmedgenomics.biomedcentral.com]

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

• Short Stature

  and normal stature. [findzebra.com]

  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.archives-ouvertes.fr]

• Poor Feeding

  […] 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]

  […] 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]

  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]

• Fever

  Fever, fatigue and malaise may feature together with the cough and more severe symptoms include shortness of breath, wheezing and chest pains. [slidedoc.us]

  […] syndrome DiGeorge syndrome Other immune system diseases Crohn’s disease Ulcerative colitis (UC) Inflammatory bowel disease Blau syndrome Sarcoidosis, early-onset Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome Familial Mediterranean fever [csirnotes.com]

  Evaluation for urinary tract infection is recommended in cases of unexplained fever or irritability in children unable to communicate. Endocrine evaluation. [ncbi.nlm.nih.gov]

• Short Finger

  Some patients only have a small bald area on the scalp and short fingers, while others are born with absence of skin on parts of the scalp, defects of the skull bones and complete absence of fingers or toes. [atlasofscience.org]

  Typical CHARGE hand: square hand, short fingers, finger-like thumb, hockey-stick palmar crease Testing Cytogenetic analysis. [ncbi.nlm.nih.gov]

• Recurrent Respiratory Infections

  Other findings included seizures, feeding difficulties, and recurrent respiratory infections. Characteristic facial findings included thin upper lip, long philtrum, flaring of eyebrows, and narrow almond-shaped palpebral fissures. [findzebra.com]

  Feeding difficulties and recurrent respiratory infections were common to some patients in both groups. [nature.com]

• 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]

  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. [ncbi.nlm.nih.gov]

  diarrhea and associated with non-specific villous ... [kegg.jp]

• 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]

  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. [ncbi.nlm.nih.gov]

• Normal Hearing

  Normal hearing screening. He remains attentive and collaborates during the evaluation and shows no aggressiveness. He uses a language with few words, non-repetitive ( Figure 1 ). Figure 1 Proband, III-4. A 19-years-old male with full mutation. [scielo.org.co]

• 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]

  A 20-month-old boy had delayed psychomotor development, poor growth, seizures, ventricular septal defect, postaxial polydactyly, and hip dislocation. [findzebra.com]

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

  dislocation Dislocated hips Dislocation of hip [ more ] 0002827 Long philtrum 0000343 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 [rarediseases.info.nih.gov]

• Brachydactyly

  HYBRIDIZATION BRACHYDACTYLY TYPE A1 I RECEPTOR GENE DISTAL LONG ARM RING CHROMOSOME-15 GROWTH-RETARDATION CANDIDATE REGION DEVELOPMENTAL DELAY TERMINAL DELETION APA Author BIBTEX Harvard Standard RIS Vancouver [research.rug.nl]

  Similar findings with the reported cases included abnormal segmentation of the vertebrae, minor developmental abnormalities of the distal limbs (e.g., clinodactyly, brachydactyly of the fifth fingers, and preaxial polydactyly), ocular colobomas, renal [findzebra.com]

  176807 ] Lhermitte-Duclos disease (LDD) [MIM: 158350 ] Squamous cell carcinoma of the head and neck (HNSCC) [MIM: 275355 ] Endometrial cancer (ENDMC) [MIM: 608089 ] Macrocephaly/autism syndrome (MCEPHAS) [MIM: 605309 ] PTHLH P12272 non-pleiotropic Brachydactyly [sbg.bio.ic.ac.uk]

  They can also have abnormalities of the bones of the hands or feet, including unusually short or curved fifth (pinky) fingers ( brachydactyly or clinodactyly, respectively) and flat feet ( pes planus ). [ghr.nlm.nih.gov]

  A/B/D/E Brachydactyly C Brachydactyly-syndactyly syndrome Feingold syndrome Hand-foot-genital syndrome Keutel syndrome Brachydacytly-mental retardation syndrome Rubinstein-Taybi syndrome Acheiropodia Cornelia de Lange syndrome (CdLS) Holt-Oram syndrome [csirnotes.com]

• Macrocephaly

  Based on the phenotype in their patients and those previously reported, Low et al. (2017) suggested that short stature, relative microcephaly, and developmental delay are consistent findings, although one of their patients had macrocephaly, hydrocephalus [findzebra.com]

  ] Bannayan-Riley-Ruvalcaba syndrome (BRRS) [MIM: 153480 ] Prostate cancer (PC) [MIM: 176807 ] Lhermitte-Duclos disease (LDD) [MIM: 158350 ] Squamous cell carcinoma of the head and neck (HNSCC) [MIM: 275355 ] Endometrial cancer (ENDMC) [MIM: 608089 ] Macrocephaly [sbg.bio.ic.ac.uk]

  Congenital malformation H01806 Tenorio syndrome Tenorio syndrome is a overgrowth syndrome characterized by overgrowth, macrocephaly, intellectual disability, mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren's syndrome [DS: [kegg.jp]

  Lathosterolosis Spermatogenic failure Microtia hearing impairment and cleft palate (MHICP) Mosaic variegated aneuploidy (MVA) syndrome Mulibrey nanism Nance-Horan syndrome Global cerebral hypomyelination Nonsyndromic congenital nail disorder (NDNC) Macrocephaly [csirnotes.com]

  The only exception is patient 12 who had macrocephaly, hydrocephalus and normal stature, and in whom the variant was at the exon 1 boundary. [nature.com]

• 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]

• Normal Stature

  and normal stature. [findzebra.com]

  The only exception is patient 12 who had macrocephaly, hydrocephalus and normal stature, and in whom the variant was at the exon 1 boundary. [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]

  Dysmorphic features included plagiocephaly, anteverted nares, short columella, high palate, micrognathia, low-set and posteriorly rotated ears, short neck, and coloboma. He also had laryngotracheomalacia. [findzebra.com]

  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]

• Short Nose

  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]

  [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]

  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

  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]

  [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]

  forehead Decreased width of the forehead 0000341 Renal agenesis Absent kidney Missing kidney [ more ] 0000104 Renal cyst Kidney cyst 0000107 Renal hypoplasia Small kidneys Underdeveloped kidneys [ more ] 0000089 Scoliosis Abnormal curving of the spine [rarediseases.info.nih.gov]

• Global Developmental Delay

  Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine and postnatal growth restriction, global developmental delay, intellectual disability [malacards.org]

  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]

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

• Febrile Seizures

  He was also diagnosed with febrile seizures and had significant sleep disturbance. [go.gale.com]

  seizures Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME) Benign familial neonatal and infantile epilepsies Ataxia with ocular apraxia (AOA) Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) Idiopathic [csirnotes.com]

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]

and in some cases, due to treatment also. [dovemed.com]

[…] bronchitis, there is no data that supports the use of these agents in the treatment of acute bronchitis. [slidedoc.us]

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]

What is the Prognosis of Verheij Syndrome? (Outcomes/Resolutions) The prognosis of Verheij Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any. [dovemed.com]

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]

CLD presents great heterogeneity, with etiologic aspects comprising diverse genetic and/or environmental factors. CLD may present as an isolated finding or be associated with other congenital anomalies. [teses.usp.br]

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]

[…] 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]

How can Verheij Syndrome be Prevented? Verheij Syndrome may not be preventable since many of these genetic disorders are diagnosed at or following the birth of the child. [dovemed.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]