Results 231 to 240 of about 197,687 (396)

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang, Shuangzhong Chen, Guanping Dong, Suhong Yang, Ping Wang, Qiong Zhou, Pingping Wang   +6 more
wiley   +1 more source

Bilateral Ankyloblepharon Filiforme Adnatum: A Case Report Highlighting the Importance of Early Recognition and Treatment. [PDF]

Cureus
Nakamura C, Negishi T, Ito M, Koiwa C, Nakao S.   +4 more
europepmc   +1 more source

Selective α_1A-Adrenoceptor Stimulation Induces Mueller’s Smooth Muscle Contraction in an Isolated Canine Upper Eyelid Preparation [PDF]

, 2010
Shiharu Yano, Masamichi Hirose, Tsutomu Nakada, Jun Nakayama, Kiyoshi Matsuo, Mitsuhiko Yamada   +5 more
openalex   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Eccrine intraepidermal poroma of the eyelid

Indian Journal of Ophthalmology, 2019
Sukriti Ahuja, Apjit Kaur, Madhumati Goel, Shivanjali Raghuvanshi, Ajay Arya   +4 more
doaj   +1 more source

Modified Müller's muscle conjunctival resection combined with levator plication in moderate to severe congenital ptosis with poor levator function. [PDF]

Sci Rep
Aghajani A, Rafizadeh SM, Rajabi MT, Hosseini SS, Fakhredin H, Ghanbari H, Zand A.   +6 more
europepmc   +1 more source

Eyelid cutaneous horn

Journal of Cutaneous and Aesthetic Surgery, 2012
Sadeghi, Ezatollah, Johari, Hamed Ghoddusi, Deylami, Hamed N   +2 more
openaire   +2 more sources

Occurrence and severity of upper eyelid skin contracture in facial nerve palsy [PDF]

, 2016
Kimia Ziahosseini, Vanessa Venables, Catriona Neville, Charles Nduka, Bhupendra C. Patel, Raman Malhotra   +5 more
openalex   +1 more source

A recurrent mosaic mutation in SMO, encoding the hedgehog signal transducer smoothened, is the major cause of Curry-Jones syndrome [PDF]

, 2016
et al,, Grange, Dorothy K
core   +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