Based on the clinical and molecular findings, both patients appear to have novel presentations of WSS.[ncbi.nlm.nih.gov]
We present a five-year-old boy who was diagnosed with WDSTS based on identification of a novel de novo pathogenic variant in the KMT2A gene (OMIM: 159555) by Whole Exome Sequencing and supported by some characteristic clinical features.[ncbi.nlm.nih.gov]
In this report, we describe 2 newly identified patients with Wiedemann-Steiner syndrome who presented with variable severity.[ncbi.nlm.nih.gov]
[…] dysmorphism-developmental delay syndrome Prevalence: Inheritance: X-linked recessive or Autosomal dominant Age of onset: Neonatal, Infancy ICD-10: Q87.1 OMIM: 605130 UMLS: C1854630 MeSH: - GARD: 5565 MedDRA: - The documents contained in this web site are presented[orpha.net]
Conclusions Based on the clinical and molecular findings, both patients appear to have novel presentations of WSS.[connection.ebscohost.com]
Histones are subject to a plethora of post-translational modifications, which are able to influence a variety of nuclear processes [ 6 ].[ncbi.nlm.nih.gov]
Wiedemann-Steiner syndrome results from a mutation in the MLL (also known as KMT2A ) gene on the longarm of chromosome 11. KMT2A is a histone-modification enzyme, meaning that it helps modify the expression of other genes.[wiedemannsteiner.com]
arm of chromosome 11. [4] The gene encodes a histone-modification enzyme — that is, it helps modify the expression of other genes. [7] The condition is autosomal dominant, meaning that only one abnormal copy of the gene is needed for a person to have[en.wikipedia.org]
Wiedemann-Steiner syndrome is a rare genetic disorder resulting from mutations in the MLL (also known as KMT2A ) gene on the longarm of chromosome 11.[wssfoundation.org]
It has a variable clinical phenotype with additional manifestations reported including muscular hypotonia, patent ductus arteriosus, smallhands and feet, hypertrichosis on the back, behavioral difficulties, and seizures.[orpha.net]
It can also be accompanied by musculoskeletal anomalies such as muscular hypotonia and smallhands and feet.[ncbi.nlm.nih.gov]
This patient expands the clinical phenotype associated with mutations in KMT2A to include variable patterns of hypertrichosis and a significantly advanced bone age with premature eruption of the secondary dentition despite her growth retardation.[ncbi.nlm.nih.gov]
We describe three patients with a syndrome comprising arched, thick eyebrows, hypertelorism, narrow palpebral fissures, broad nasal bridge and tip, long philtrum, thin upper lip, stubby hands and feet, hirsutism, and severe psychomotorretardation.[ncbi.nlm.nih.gov]
Wiedemann HR, Kunze J, Grosse FR, Dibbern H: A syndrome of abnormal facies, short stature, and psychomotorretardation, in Wiedemann HR, Kunze J, Grosse FR, Dibbern H (eds): Atlas of Clinical Syndromes: A Visual Aid to Diagnosis for Clinicians and Practicing[karger.com]
A syndrome of abnormal facies, short stature, and psychomotorretardation In Atlas of Clinical Syndromes: A Visual Aid to Diagnosis for Clinicians and Practicing Physicians, 2nd ed., pp 198–199.[ncbi.nlm.nih.gov]
The other patient, a boy, showed severe developmental retardation with automatic self-mutilation, facial dysmorphism, and hypertrichosis at a later age.[ncbi.nlm.nih.gov]
The other patient, a boy, showed severe developmental retardation with automatic self-mutilation, facial dysmorphism, and hypertrichosis at a later age.[ncbi.nlm.nih.gov]
We describe three patients with a syndrome comprising arched, thick eyebrows, hypertelorism, narrow palpebral fissures, broadnasalbridge and tip, long philtrum, thin upper lip, stubby hands and feet, hirsutism, and severe psychomotor retardation.[ncbi.nlm.nih.gov]
nasalbridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [[rarediseases.info.nih.gov]
We also noted thick eyebrows or synophrys (3/4), strabismus (3/4), long eyelashes (2/3), bulbousnose (2/3), and narrow external auditory canals (2/4) (Fig. 2 ). Oligodontia was present in one patient.[ncbi.nlm.nih.gov]
Other frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia.[preventiongenetics.com]
Uro-genital abnormalities were unilateral cryptorchidism, scrotal hypoplasia, and sacrococcygeal lipoma with neurogenic bladder. Congenital heart defect was present in one patient.[ncbi.nlm.nih.gov]
Stereotypies and sleepdisturbances were noted in three patients. Hyperventilation and generalized seizures were observed in one patient. Two patients present with Chiari type I malformation visible in cerebral magnetic resonance imaging.[ncbi.nlm.nih.gov]
Hyperventilation and generalizedseizures were observed in one patient. Two patients present with Chiari type I malformation visible in cerebral magnetic resonance imaging. Interestingly, the patient carrying the c.8558T G (p.[ncbi.nlm.nih.gov]
When we found out she was choking because of poorcoordination and high arched pallet, we learned to thicken foods, and when we had to stick a hole in her gut to get her adequate nutrition we reasoned it was for her good.[imgbars.com]
Pelvic ultrasound and CT scan of the abdomen would complete the workup, but why order these expensive diagnostic tests before consulting a gynecologist or endocrinologist? Prognosis - Hairy elbows Not supplied.[checkorphan.org]
Detailed immunological workup in the RS patients revealed markedly decreased BAFF-R expression on B cells. To our knowledge, this finding has not been previously published.[nature.com]
Recombinant human growth hormone treatment should be considered for treatment of GHD.[ncbi.nlm.nih.gov]
[ edit ] There is no specific cure or treatment for Wiedemann–Steiner syndrome.[en.wikipedia.org]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
“There’s research that led to the discovery, but there’s no research that tells us about life expectancy or the best course of treatment. I don’t want to find out in 10 years that I should have been doing ‘X’ treatment instead of ‘Y’ treatment.”[independent.com]
Awareness and precise identification of CVID-associated lung disease may allow for better assessment of prognosis and direction of therapy.[medworm.com]
Diagnosis and Prediction of Fulminant Prognosis in Pediatric Acute Liver Failure : Investigations of Clinical Symptoms and Laboratory Data of 135 Cases by the Pediatric Acute Liver Failure Study Group in Japan MUSHIAKE,Sotaro;BESSHO,Kazuhiko;IDA,Shinobu[researchmap.jp]
Gastroenteritis of unknown etiology (GUE) is a significant cause of mortality in the failure, and human immunodeficiency virus/acquired immunodeficiency syndrome. . Ten conditions had ICD-9 codes with the term “unspecified” in the title.[bemonformmis.cf]
School-aged children affected with WSS may benefit from one-on-one aides, modified instruction, and/or special day class environments. [6] Epidemiology [ edit ] A few hundred people have been documented with the condition worldwide.[en.wikipedia.org]
ID affects 1–3% of the population, but the pathophysiological background remains poorly understood [ 2 ].[ncbi.nlm.nih.gov]
In addition, this study extends the mutational and immunophenotypical spectrum of Wiedemann-Steiner and Roifman syndromes and highlights potential directions for future pathophysiological research.[nature.com]
It wasn't preventable, nor is there any expectation it would affect her siblings' children. "It really relieves a lot of worry to know that," Siloti said.[sciencedaily.com]
Obesity and facial hirsutism develop by 15–30 years of age; hypertension and obesity occur later –Porphyria: Congenital erythropoietic porphyria have increased body hair, red urine, photosensitivity with bullae, and red to pink teeth (werewolves of old) Prevention[checkorphan.org]
U: 10th European Symposium on Prevention of Congenital Anomalies, Book of Abstracts. Bilbao, str. 62-62. 1162.[bib.irb.hr]
Case Rep Pediatr. 2017(6257494) Dec 2017 [Refereed] Effects of vaccine-acquired polyclonal anti-HBs antibodies on the prevention of HBV infection of non-vaccine genotypes.[researchmap.jp]