Results 231 to 240 of about 28,352,789 (316)

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz   +6 more
wiley   +1 more source

High control rates of proton‐ and carbon‐ion–beam treatment with intensity‐modulated active raster scanning in 101 patients with skull base chondrosarcoma at the Heidelberg Ion Beam Therapy Center

Cancer, 2018
M. Mattke, Kira Vogt, N. Bougatf, T. Welzel, J. Oelmann-Avendano, H. Hauswald, A. Jensen, M. Ellerbrock, O. Jäkel, T. Haberer, K. Herfarth, J. Debus, M. Uhl   +12 more
semanticscholar   +1 more source

Validation of the Persian version of anterior skull base questionnaire in patients undergoing endoscopic transnasal transsphenoidal surgery. [PDF]

Sci Rep
Rashidi F, Rostami Ravari M, Abed M, Delbari P, Zeinalizadeh M, Meysamie A, Pejman Sani M, Shafizadeh M.   +7 more
europepmc   +1 more source

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cantú syndrome (CS) is a rare genetic condition caused by pathogenic variants in either ABCC9 or KCNJ8, leading to gain‐of‐function of KATP‐channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investigates the voice characteristics in individuals with CS, an aspect that has received little ...
Lotte Kleinendorst, Melanie N. S. Molegraaf, Dorothy K. Grange, Rico N. P. M. Rinkel, Mieke M. van Haelst   +4 more
wiley   +1 more source

Surgical Experience and Validation of the "Bow Tie" Trilayer Graft Technique for Closure of Anterior Skull Base Defects. [PDF]

Laryngoscope Investig Otolaryngol
Callander JK, Erickson TS, Abdulbaki H, Theodosopoulos PV, Aghi MK, Goldschmidt ED, El-Sayed IH, Gurrola JG.   +7 more
europepmc   +1 more source

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +1 more source

Skull Base Metastasis As the Initial Manifestation of Occult Clear Cell Renal Cell Carcinoma: An Uncommon Cause of Acute Diplopia. [PDF]

Cureus
Sequeira S, Machado Martins I, Santos A.
europepmc   +1 more source

Anatomic Diagram as a Novel Assessment Strategy for Subclinical Local Residual Disease in Sinonasal Squamous Cell Carcinoma and Intestinal‐type Adenocarcinoma

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Objective In the last two decades, transnasal endoscopic surgery (TES) has become pivotal in the management of sinonasal tumors. This approach involves a multiblock tumor resection, adding complexity to the interpretation of surgical margins after pathological examination.
Piergiorgio Gaudioso, Leonardo Calvanese, Stefano Taboni, Giacomo Contro, Diego Cazzador, Tommaso Saccardo, Gloria Schiavo, Vittorio Rampinelli, Alberto Schreiber, Gabriele Testa, Cesare Piazza, Enzo Emanuelli, Davide Mattavelli, Piero Nicolai, Marco Ferrari   +14 more
wiley   +1 more source

The 4 F (Fat, Fascia, Fibrin, and Fat) Technique for Skull Base Reconstruction in Endoscopic Transorbital Surgery. [PDF]

Acta Neurochir (Wien)
Corvino S, Corrivetti F, Catapano G, Corazzelli G, Colamaria A, Maghalashvili E, Dallan I, Di Maria D, Di Matteo G, Iaconetta G, de Notaris M.   +10 more
europepmc   +1 more source