Results 121 to 130 of about 44,262 (279)

Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?

Clinical Genetics, EarlyView.
A nuclear family affected by distal arthrogryposis with novel biallelic MYH3 variants, which at the heterozygous state yield a subclinical phenotype, highlighting the complexity of MYH3‐related disorders and their inheritance modes. ABSTRACT Distal arthrogryposis constitutes a highly heterogeneous group of disorders with a critical need for clear ...
Omar Zgheib, Thomas Rio‐Frio, Michel Guipponi, Thierry Nouspikel, Siv Fokstuen, Marc Abramowicz, Philippe Khau Van Kien   +6 more
wiley   +1 more source

Congenital Hip Dysplasia

Clinical Pediatrics, 1964
J D, LOWELL, M H, WITTENBORG, R, DOBSON, M, ROSENTHAL, A, WEBER, N B, TALBOT, R, TOCH, L, BURGIN   +7 more
openaire   +3 more sources

Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature

Clinical Genetics, EarlyView.
The authors present a novel case and review of individuals with GINS1 deficiency, causing severe growth restriction and combined immunodeficiency. Only the ninth case of this ultrarare disorder, it highlights the role of these variants in disease, glaucoma as a feature, and the possibility of immunodeficiency without infections in affected individuals.
Michael P. Mackley, Rae Brager, Hannah Geddie, Vicky Breakey, Rebecca Hough, Dimitrios J. Stavropoulos, Vanda McNiven   +6 more
wiley   +1 more source

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency

Clinical Genetics, EarlyView.
We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig, Taciane Alegra, Leonardo Martinello da Rosa, Nataniel Floriano Ludwig, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz   +5 more
wiley   +1 more source

The lateral hip instability test: Diagnostic accuracy for lateral or posterolateral femoral head undercoverage

Journal of Experimental Orthopaedics
Purpose To (i) describe the lateral hip instability test, developed to discriminate between stable versus unstable hips with lateral or posterolateral femoral head undercoverage, (ii) evaluate differences between painful hips that tested positive versus ...
Michael Wettstein, Kinga Michalewska, Sonia Ramos‐Pascual, Stefan Hefer, Elyazid Mouhsine, Mo Saffarini   +5 more
doaj   +1 more source

Femoroacetabular Impingement (FAI) Syndrome : the medical imaging perspective [PDF]

, 2014
Introduction: Sports persons, physicians, orthopods and radiologists have become increasingly aware of the extra stress that is imposed on the hip joints with excessive activity particularly when superadded weight bearing and asymmetrical variations from
Zammit, Anthony
core  

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

Clinical Genetics, EarlyView.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw, Tzung‐Chien Hsieh, Martijn Koetsier, Abdulrazak Alali, Fatimah Albuainain, Elena Bacchelli, Tahsin Stefan Barakat, Yline Capri, Sandra Chantot‐Bastaraud, Valeria Capra, Deanna Alexis Carere, Emma Clement, Nour Elkhateeb, Madeleine Franchi, Jing‐Mei Li, Nicole Matthews, Vanda McNiven, Sarju G. Mehta, Masayuki Nakamura, Chanika Phornphutkul, Nicole Revencu, Marcello Scala, Natalie Shallow, Jennifer Stefanich, Marta Viggiano, Paola Visconti, Susan Walker, Federico Zara, Mariëlle Alders, Bobby P. C. Koeleman, Renske Oegema   +30 more
wiley   +1 more source

A Rare Case of Cutaneous Extramedullary Hematopoiesis in Chronic Myeloid Leukemia

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Cutaneous extramedullary hematopoiesis (CEH) is a rare manifestation of extramedullary hematopoiesis (EMH), a process typically associated with fetal development or myeloproliferative neoplasms. EMH most commonly involves the spleen, liver, and lymph nodes, with CEH being exceedingly rare in chronic myeloid leukemia (CML).
Bennett Christie‐Nguyen, Hanadi El Achi, Levani Iashvili, Amer Wahed, Brenda Mai, Jacob Armstrong   +5 more
wiley   +1 more source

Red‐light flashing pens and seizures in children

Developmental Medicine &Child Neurology, EarlyView.
Guidelines exist to limit seizure‐provoking visual stimuli. However, existing recommendations are not universally applied, and poorly regulated flickering lights are easily encountered in consumer products. Two girls experienced prolonged absence seizures triggered by a red‐light flickering pen.
Simone Gasparini, Alice Dainelli, Francesca Piras, Simona Balestrini, Renzo Guerrini   +4 more
wiley   +1 more source

Frequency of Developmental Hip Dysplasia in a Training Hospital

Haseki Tıp Bülteni, 2010
Aim: We aimed to determine the frequency of cases with developmental hip dysplasia during the neonatal period and the associated risk factors. Methods: Hip ultrasound images of 258 full-term newborns aged one month were evaluated prospectively in ...
Emrah Can, İlhan Asya Tanju, Cihan Meral   +2 more
doaj