Results 141 to 150 of about 1,118,655 (360)

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Rehabilitation of hearing impaired children in India – An update [PDF]

, 2013
The prevalence of deafness in India is fairly significant. It is the second most common cause of disability. Approximately 63 million people (6.3%) in India suffer from significant auditory loss.1 Rehabilitation of hearing impaired children in India ...
Naik, Mahendra S, Naik, Sulabha M, Sharma, Akriti   +2 more
core   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

The Correlation of Clinical Features and Endolymphatic Hydrops Visualized by 3D-Real IR MRI in Children With Sudden Sensorineural Hearing Loss [PDF]

, 2021
Wei Chen, Yue Geng, Siqi Luo, Naier Lin, Yan Sha   +4 more
openalex   +1 more source

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

Evaluation of Different Types of Hearing Loss in 6 Years Old Preschool Children of Hamadan Province in1998

پزشکی بالینی ابن سینا, 2002
Any type of hearing loss can create imperfect development of    educational skills in primary school children.           In this descriptive study different types of hearing loss in 22152 six years    old preschool children of Hamadan province were ...
Farhad Farahani
doaj  

AUDIOMETRIC PROFILE AND CLINICAL CHARACTERISTICS OF HEARING IMPAIRMENT IN ADULTS AT NANGARHAR UNIVERSITY TEACHING HOSPITAL

Interdisciplinary Approaches to Medicine
Hearing loss (HL) is defined as a partial or total inability to perceive sounds in one or both ears, varying from mild to profound levels. This study aimed to determine the audiometric profile and clinical features of hearing loss among individuals who ...
Abdul Azeem Rasouli, Mohammad Azim Azimee, Fahima Azeem   +2 more
doaj   +1 more source

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss, Amanda V. Karam, Julia Shalen, David E. Tunkel, Belina Y. Yi, Kelsey S. Guthrie, Emily M. Kudalkar, Anna E. Patrick, Sonja A. Rasmussen   +8 more
wiley   +1 more source

Intratympanic corticosteroids for sudden sensorineural hearing loss

, 2022
Stefan K. Plontke, Christoph Meisner, Sumit Agrawal, Per Cayé‐Thomasen, Kevin Galbraith, Anthony A. Mikulec, Lorne Parnes, Yaamini Premakumar, Julia Reiber, Anne GM Schilder, Arne Liebau   +10 more
openalex   +2 more sources

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source