Myhre syndrome
Myhre syndrome is a connective tissue disorder with multisystem involvement, progressive
and proliferative fibrosis that may occur spontaneously or following trauma or surgery, mild …
and proliferative fibrosis that may occur spontaneously or following trauma or surgery, mild …
Myhre syndrome in a female with previously undescribed symptoms: further delineation of the phenotype
MAM Van Steensel, M Vreeburg… - American Journal of …, 2005 - Wiley Online Library
Myhre syndrome is a rare connective tissue disease characterized by nonprogressive
stiffness of the large joints, short stature with a peculiar build, and a distinctive facial …
stiffness of the large joints, short stature with a peculiar build, and a distinctive facial …
Myhre syndrome: a first familial recurrence and broadening of the phenotypic spectrum
I Meerschaut, A Beyens, W Steyaert… - American Journal of …, 2019 - Wiley Online Library
Myhre syndrome is a rare multisystem connective tissue disorder, characterized by short
stature, facial dysmorphology, variable intellectual disability, skeletal abnormalities …
stature, facial dysmorphology, variable intellectual disability, skeletal abnormalities …
Myhre syndrome: a report of six Chinese patients and literature review
KPT Yu, HM Luk, BHY Chung, IFM Lo - Clinical Dysmorphology, 2019 - journals.lww.com
Myhre syndrome is a clinically distinct syndrome with multiple system involvement. It was
first described in 1981 by Myhre et al.(1981) in two unrelated patients. The condition was …
first described in 1981 by Myhre et al.(1981) in two unrelated patients. The condition was …
Myhre syndrome: clinical features and restrictive cardiopulmonary complications
LJ Starr, DK Grange, JW Delaney… - American Journal of …, 2015 - Wiley Online Library
Myhre syndrome, a connective tissue disorder characterized by deafness, restricted joint
movement, compact body habitus, and distinctive craniofacial and skeletal features, is …
movement, compact body habitus, and distinctive craniofacial and skeletal features, is …
[HTML][HTML] Natural history of Myhre syndrome
DD Yang, M Rio, C Michot, N Boddaert… - Orphanet Journal of …, 2022 - Springer
Background Myhre syndrome (MS) is a rare genetic disease characterized by skeletal
disorders, facial features and joint limitation, caused by a gain of function mutation in …
disorders, facial features and joint limitation, caused by a gain of function mutation in …
Case of Myhre syndrome with autism and peculiar skin histological findings
L Titomanlio, MG Marzano, E Rossi… - American journal of …, 2001 - Wiley Online Library
Abstract Myhre syndrome (MS)(MIM 139210) is a rare disorder characterized by short
stature, mental retardation, muscular build, blepharophimosis, and decreased joint mobility …
stature, mental retardation, muscular build, blepharophimosis, and decreased joint mobility …
Myhre syndrome with ataxia and cerebellar atrophy
R Bachmann-Gagescu, FM Hisama… - Clinical …, 2011 - journals.lww.com
Myhre syndrome (MIM 139210) is a rare disorder, which was first described 30 years ago in
two unrelated boys with mental retardation, short stature, muscular hypertrophy, and limited …
two unrelated boys with mental retardation, short stature, muscular hypertrophy, and limited …
Clinical features and respiratory complications in Myhre syndrome
R McGowan, R Gulati, P McHenry, A Cooke… - European journal of …, 2011 - Elsevier
We describe the clinical characteristics of 4 singleton cases, 3 males and 1 female, with
Myhre Syndrome (OMIM 139210), who were born to non-consanguineous parents. Three …
Myhre Syndrome (OMIM 139210), who were born to non-consanguineous parents. Three …
The fifth female patient with Myhre syndrome: further delineation
LE Becerra-Solano, M Díaz-Rodriguez… - Clinical …, 2008 - journals.lww.com
We report the fifth female patient with Myhre syndrome (MS) and review the literature. She is
a 13-year-old Mexican girl whose phenotype fulfills all the clinical and radiological criteria …
a 13-year-old Mexican girl whose phenotype fulfills all the clinical and radiological criteria …