Results 71 to 80 of about 18,875 (272)
Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.We report a Palestinian female infant with a homozygous pathogenic EFL1 variant (c.3284G>A; p.Arg1095Gln) causing Shwachman–Diamond syndrome type 2 (SDS2). Beyond the classical features of pancytopenia, exocrine pancreatic insufficiency, and growth failure, the patient showed previously unreported ocular manifestations—stage 2–3 retinopathy of ...
Ibrahim Taha +13 more
wiley +1 more source
Bilateral abducens nerve palsy due to septic thrombophlebitis. [PDF]
, 2019 PurposeTo report a case of septic thrombophlebitis producing bilateral abducens nerve palsy.ObservationA 65 year-old woman with recent sinus surgery experienced the onset of horizontal diplopia during treatment for bacteremia. Computer tomography of head
Robbins, Shira L +2 more
core
Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea
American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 937-946, April 2026.ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat +4 more
wiley +1 more source
A Female Patient with Down Syndrome and Low-Penetrance Leber's Hereditary Optic Neuropathy. [PDF]
, 2014 We present the case of a 19-year-old female with a history of Down syndrome (DS) who was referred to our neuro-ophthalmology clinic for evaluation of Leber's hereditary optic neuropathy (LHON).
Frousiakis, Starleen E +3 more
core +6 more sources
Ocular manifestations in Gorlin-Goltz syndrome [PDF]
, 2019 Background: Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare genetic disorder that is transmitted in an autosomal dominant manner with complete penetrance and variable expressivity.
Franzone, F. +8 more
core +1 more source
Clinical Case Reports, Volume 14, Issue 4, April 2026.ABSTRACT Early and accurate spectacle correction in children with refractive esotropia and anisometropic amblyopia can restore orthotropia, improve visual acuity, and prevent long‐term amblyopia. Timely diagnosis, careful refractive assessment, and individualized management are crucial.
Nabila Al‐Tamimi +3 more
wiley +1 more source
Epileptic Disorders, Volume 28, Issue 2, Page 344-358, April 2026.Abstract Objective To summarize the electro‐clinical and genetic characteristics of children with Mowat–Wilson syndrome (MWS). Methods This study is a hospital‐based case series analyzing clinical data from 31 pediatric patients with MWS and epilepsy treated at Peking University First Hospital between June 2020 and December 2024.
Yi Ju, Tao‐yun Ji
wiley +1 more source
Case Reports in Ophthalmological Medicine, 2023 Purpose. Cyclic esotropia (alternate-day squint) is a poorly understood form of strabismus that mostly occurs at younger pediatric ages. It demonstrates classically a 48-hour cycle with 24 hours of manifest esotropia and 24 hours of orthotropia, which is
Cem Evereklioglu +3 more
doaj +1 more source
Oral characteristics of Trisomy 8 and monosomy 18: a case report [PDF]
, 2011 Several reports described various mosaic chromosomal syndromes characterized by alterations originated by either an excess or deficit in the number of chromosomes.
Campus, Guglielmo Giuseppe +3 more
core +1 more source
Indian Journal of Ophthalmology, 2020 To report convergence excess esotropia (CEET) following 0.01% atropine eye drops (Low dose atropine [LDA]). Children who developed CEET that resolved promptly after discontinuation of LDA are described.
Mihir T Kothari +5 more
semanticscholar +1 more source