Autism Spectrum Disorder and Psychiatric Comorbidity in a Patient with Myhre Syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Autism and Developmental Disorders"
DOI: 10.1007/s10803-019-04015-y
Abstract: Myhre syndrome (MS) is a connective tissue disorder with multisystem involvement with or without intellectual disability. In most cases SMAD4 mutations are reported. To date, 55 individuals have been molecularly confirmed. Autism has been proposed… read more here.
Keywords: autism; disorder; spectrum disorder; myhre syndrome ... See more keywords
Myhre syndrome: Age‐dependent progressive phenotype
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DOI: 10.1111/ped.13413
Abstract: Myhre syndrome (MS; OMIM 139210) is a rare congenital disorder first reported in 1981, which mainly affects connective tissues. The clinical characteristics include mental and growth deficiencies, muscular hypertrophy, joint restriction, and facial deformities. Restrictive… read more here.
Keywords: age dependent; syndrome age; dependent progressive; age ... See more keywords
Benefit of cochlear implantation in a patient with Myhre syndrome
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DOI: 10.1136/bcr-2021-243164
Abstract: Myhre syndrome is a rare disorder characterised by short stature, skeletal anomalies, facial dysmorphism and hearing loss (HL), resulting from heterozygous mutations of the SMAD4 gene. We describe the benefits of cochlear implant (CI) in… read more here.
Keywords: cochlear implantation; implantation patient; patient myhre; myhre syndrome ... See more keywords
Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in SMAD4 cause a Multisystem Fibroproliferative Response
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric and Developmental Pathology"
DOI: 10.1177/10935266221079569
Abstract: Background: Myhre syndrome, caused by pathogenic variants in SMAD4, is characterized by compact body habitus with short stature, distinctive craniofacial appearance, stiff skin, cardiovascular abnormalities (valve stenosis, coarctation, hypoplasia, or stenosis of aorta), effusions of… read more here.
Keywords: myhre syndrome; pathogenic variants; review pathologic; pathologic characteristics ... See more keywords