Results 51 to 60 of about 1,728 (214)

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Intraoperative relaxed muscle positioning technique results in a tertiary Center for Thyroid Orbitopathy Related Strabismus

BMC Ophthalmology, 2018
Background Previous techniques resulted with low rates of successful fusion after the surgeries and high necessity of additional surgeries in the treatment of thyroid orbitopathy related strabismus.
Ahmet Murat Sarici, Burak Mergen, Velittin Oguz, Cezmi Dogan   +3 more
doaj   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Current Understanding of the Progression and Management of Thyroid Associated Orbitopathy: A Systematic Review

Ophthalmology and Therapy, 2019
Thyroid associated orbitopathy (TAO) is a common diagnosis encountered by ophthalmologists and oculoplastic surgeons. TAO has a varying clinical presentation that can include upper eyelid retraction, restrictive strabismus, proptosis, exposure ...
Nickisa M. Hodgson, Fatemeh Rajaii
doaj   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

The Use of Titanium T-Plate as Platform for Globe Alignment in Severe Paralytic and Restrictive Strabismus

, 2010
To evaluate the long-term effectiveness of improved ocular alignment using a suture/T-plate anchoring platform system. Retrospective, noncomparative, interventional case series. setting: Institutional.
Kenneth B. Krantz, Krantz, Kenneth B, David T. Tse, Craig A. McKeown, Tse, David T, Capo, Hilda, Jeffrey D. Tse, Hilda Capo, Shriver, Erin M, Erin M. Shriver, Tse, Jeffrey D, McKeown, Craig A   +11 more
core   +1 more source

Review of potential simultaneous operations for the surgical rehabilitation of patients with thyroid eye disease [PDF]

Клиническая офтальмология, 2022
D.S. Atarshchikov1, E.Yu. Korchemkina2 1Central Clinical Hospital and Polyclinic of the Department for Presidential Affairs, Moscow, Russian Federation 2Academy of Postgraduate Education of the Federal Scientific and Clinical Center of the ...
D.S. Atarshchikov, E.Yu. Korchemkina
doaj  

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Treatment of exophthalmos and strabismus surgery in thyroid-associated orbitopathy.

, 2016
Endocrine orbitopathy (EO) can have important consequences, such as exophthalmos and restrictive strabismus. A retrospective study was performed of 35 patients with EO who underwent orbital decompression surgery and restrictive strabismus correction. Two
Galiè, M, ELIA, Giovanni, PERRI, Paolo, Franco, E, Franco, F, IMBURGIA, AURELIO, Clauser, L. C.   +6 more
core   +1 more source

Amniotic membrane in the management of strabismus reoperations [PDF]

, 2013
WOS: 000316146900015PubMed ID: 23233195To reduce postoperative scar formation and to improve duction using amniotic membrane (AM) in strabismus reoperations.
Yuzbasioglu, Erdal, Yigit, Ulviye, Tugcu, Betul, Gurez, Ceren, Helvacioglu, Firat   +4 more
core   +1 more source