Aimee A Sato,Dawn Earl,Stephanie E Wallace
Aimee A Sato
Neurofibromatosis type 1 (NF1) is a progressive multisystem condition that is characterized by a wide range of clinical manifestations and clinical variability. Individuals with NF1 can be significantly impacted by NF1-related complications...
Tara L Wenger,Margaret P Adam
Tara L Wenger
Cardio-Respiratory Complications in Adult Monozygotic Twins With Myhre Syndrome [0.03%]
Myhre综合征成人同卵双胞胎的心血管和呼吸系统并发症
Hyoungjun Sim,Forrest Wilke,Emily Hamburger et al.
Hyoungjun Sim et al.
Myhre syndrome is a rare connective tissue disorder characterized by skeletal, cardiopulmonary, dermatologic, neurocognitive changes, and a predisposition to exaggerated fibrosis in response to mechanical stress. We report monozygotic male ...
The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome [0.03%]
迟来的诊断：无症状生活和有症状生活的对比——我的赫尔综合征故事
Abdallah F Elias
Abdallah F Elias
Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic ...
Treatment of PDGFRB-Related Penttinen Syndrome With Imatinib in a Young Child [0.03%]
伊马替尼治疗年轻PDGFRB相关Penttinen综合征患者
Molly McPheron,Katelyn Burns,Tara L Wenger
Molly McPheron
PDGFRB-related Penttinen syndrome is characterized by progressive progeroid features, acroosteolysis, and development of aneurysms, structural anomalies of the posterior fossa, variable myofibromatosis, and overgrowth. PDGFRB-related disord...
Journaling for Parents and Adults With Myhre Syndrome: Using Reflective Writing to Help Cope [0.03%]
家长和成人Myhre综合征患者的日记疗法：利用反思性写作帮助应对病情
Rachel Gottlieb,Ashley W Wong,Allison L Cirino et al.
Rachel Gottlieb et al.
Myhre syndrome is a rare progressive genetic disorder characterized by hearing loss, cardiovascular and joint problems, neoplasia, and neuropsychologic disabilities. Parents of children with Myhre syndrome and adults themselves face unique ...
The Impact of Karyotype on Congenital Heart Diseases in Turner Syndrome: A Systematic Review and Meta-Analysis [0.03%]
Turner综合症核型对先天性心脏病影响的系统评价和Meta分析
Francisco Álvarez-Nava,Melissa L Crenshaw,Ivonne Bedei et al.
Francisco Álvarez-Nava et al.
It is evident that Turner syndrome (TS) impacts almost all developmental stages of the fetal heart with congenital heart disease (CHD) being seen in 23%-50% of individuals. Although the spectrum of CHDs in TS is well-established, with left-...
Maggie R Brand,Ryan Monsberger,Robert J Hopkin et al.
Maggie R Brand et al.
This research review of Myhre syndrome is a summary of published articles which provide a valuable resource for readers, researchers, and future authors. It traces the evolution of the Laryngotracheal-Arthropathy-Prognathism-Short Stature (...
Kirstine Stochholm,Astrid Bruun Rasmussen,Anne Skakkebæk
Kirstine Stochholm
Turner syndrome (TS) continues to present a diagnostic challenge to healthcare professionals. The diagnostic challenges associated with TS result in delayed treatment and clinical care. Here we provide an update of the physical appearance o...
Melissa L Crenshaw,Anne Skakkebæk
Melissa L Crenshaw