Results 21 to 30 of about 10,524 (180)
Nasopalpebral Lipoma sine Coloboma Syndrome—First Case Report
Indian Journal of Plastic Surgery, 2023 The nasopalpebral lipoma-coloboma syndrome was described for the first time in 1982. It is an autosomal dominant syndrome with complete penetrance and is characterized by features like congenital symmetric upper eyelid and nasopalpebral lipomas ...
Ved Prakash Rao Cheruvu +3 more
doaj +1 more source
Nasopalpebral lipoma coloboma syndrome
Indian Journal of Ophthalmology, 2011 Nasopalpebral lipoma-coloboma syndrome is characterized by nasopalpebral lipoma and eyelid coloboma. We report a case of a 16-year-old Indian girl who reported to us with this rare syndrome.
N Suresh Babu, D Raviprakash, Ravi Kumar
doaj +1 more source
Closing the Gap: Mechanisms of Epithelial Fusion During Optic Fissure Closure
Frontiers in Cell and Developmental Biology, 2021 A key embryonic process that occurs early in ocular development is optic fissure closure (OFC). This fusion process closes the ventral optic fissure and completes the circumferential continuity of the 3-dimensional eye.
Brian Ho Ching Chan +5 more
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Absence seizures: Update on signaling mechanisms and networks
Epilepsia Open, EarlyView.Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...
Ozlem Akman, Filiz Onat
wiley +1 more source
Journal of Clinical Laboratory Analysis, EarlyView.Clinical utility of trio WGS and time metrics in a neonate with congenital anomalies and hemolytic anemia. ABSTRACT Background Neonates with complex and evolving phenotypes often lack sufficiently specific clinical features to guide targeted genetic testing.
Hyun‐Woo Lee +8 more
wiley +1 more source
CHARGE Syndrome: What an Otolaryngologist Should Know—A Systematic Review and Meta‐Analysis
Otolaryngology–Head and Neck Surgery, EarlyView.Abstract Objective To synthesize the prevalence of otolaryngologic manifestations in CHARGE syndrome (CS) to support otolaryngologists in delivering comprehensive management. Data Sources PubMed/MEDLINE, Embase, and Google Scholar were searched for English‐ and French‐language studies published from January 1980 through January 2025.
Camille Caron +5 more
wiley +1 more source
Evaluation of Posterior Ocular Structures in Patients with Isolated Iris Coloboma
Beyoglu Eye Journal, 2020 INTRODUCTION[|]To measure lamina cribrosa thickness (LCT), lamina cribrosa depth (LCD) and subfoveal choroidal thickness (SFCT) by imaging posterior ocular structures in pediatric cases with isolated unilateral iris coloboma and to determine the ...
Serkan Akkaya
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Andrology, EarlyView.ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding +3 more
wiley +1 more source
Recurrent Meningitis with Upper Airway Obstruction in A Child: Frontonasal Encephalocele- A Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2014 Nasal encephalocele are rare congenital anomalies; these benign masses may be confused with nasal dermoids, hemangiomas, nasal gliomas and anterior skull base masses.
Soumya Sachdeva +3 more
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A rare case of Haberland syndrome
Indian Journal of Ophthalmology. Case Reports, 2021 A 10-month-old male child presented with a mass lesion in the left eye which was present since birth as noted by the parents. It was non-progressive. He also had left eye upper eyelid coloboma and a single nodular lesion on the left zygomaticotemporal ...
Mohamed I Asif +4 more
doaj +1 more source