Results 111 to 120 of about 149,128 (273)

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

Language Development and Impairment in Children With Mild to Moderate Sensorineural Hearing Loss.

Journal of Speech, Language and Hearing Research, 2017
Purpose The goal of this study was to examine language development and factors related to language impairments in children with mild to moderate sensorineural hearing loss (MMHL).
L. Halliday, O. Tuomainen, S. Rosen
semanticscholar   +1 more source

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

Blood-Labyrinth Barrier Permeability in Menière Disease and Idiopathic Sudden Sensorineural Hearing Loss: Findings on Delayed Postcontrast 3D-FLAIR MRI

American Journal of Neuroradiology, 2016
BACKGROUND AND PURPOSE: Menière disease and idiopathic sudden sensorineural hearing loss can have overlapping clinical presentation and may have similar pathophysiology.
M. N. Pakdaman, G. Ishiyama, A. Ishiyama, K. A. Peng, Hyun J. Kim, W. Pope, A. Sepahdari   +6 more
semanticscholar   +1 more source

Gastrointestinal Issues in CHARGE Syndrome: Prevalence, Patterns, and Constipation‐Related Quality of Life

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal (GI) symptoms are common in CHARGE syndrome, but their frequency and characteristics remain poorly documented due to the complex nature of CHARGE syndrome. This study aimed to determine the prevalence of GI issues in CHARGE syndrome and their impact on quality of life (QoL).
Annie Kakamousias, Kim Blake
wiley   +1 more source

Characteristics of hearing-impairment among patients in Ghana [PDF]

, 2008
The causes, and characteristics of hearing-impairment were determined prospectively among six thousand, four hundred and twenty-eight (6,428) patients who reported at the Komfo Anokye Teaching Hospital (KATH) with hearing problems.
Amedofu, GK, Antwi, BB, Ocansey, G
core   +2 more sources

X-Linked Sensorineural Hearing Loss: A Literature Review

Current Genomics, 2017
Sensorineural hearing loss is a very diffuse pathology (about 1/1000 born) with several types of transmission. X-linked hearing loss accounts for approximately 1% - 2% of cases of non-syndromic forms, as well as for many syndromic forms.
V. Corvino, P. Apisa, Rita Malesci, Carla Laria, G. Auletta, A. Franzè   +5 more
semanticscholar   +1 more source

Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders, Fieke Draaisma, Corrie E. Erasmus, Catelijne Coppens, Lotte E. R. Kleimeier, Melanie Burgers, Tuula Rinne, Martin Zenker, Laura Mazzanti, Wesley Reintjes, Nens van Alfen, Jos M. T. Draaisma   +11 more
wiley   +1 more source

Sudden sensorineural hearing loss (SSHL) following a local anesthetic dental procedure

Journal of Otology, 2019
Acute sensorineural hearing loss is an uncommon phenomenon in dentistry. We describe the case of a 79-year-old male who presented with acute sensorineural hearing loss occurring 2 days after a tooth extraction procedure under local anesthesia.
Yi Wang, Jun-Kai Cao, Hui-Xin Yang, Jin Feng, Qi-you Zhou, Fei Ji   +5 more
doaj  

Systemic lupus erythematosus and hearing disorders: literature review and meta-analysis of clinical and temporal bone findings [PDF]

, 2017
Objective: This literature review and meta-analysis was performed to evaluate the correlations among hearing and vestibular clinical symptoms, temporal bone findings, and pathological mechanisms in patients with systemic lupus erythematosus (SLE).
DI STADIO, Arianna, Ralli, Massimo
core   +1 more source