Results 61 to 70 of about 1,560 (180)

Diagnosis and treatment of upper eyelid lipoma: A case report [PDF]

, 2020
Purpose: Presentation of a rare lesion: a case of upper eyelid lipoma, Observations: A 76-year-old otherwise healthy woman presented with a right upper eyelid swelling. Her medical history was recorded. On ophthalmologic examination a soft, non-ulcerated
De Santis, G., Pasini, R., Pinelli, M., Starnoni, M.   +3 more
core   +1 more source

Microphthalmos with cyst : A clinical study

Indian Journal of Ophthalmology, 1993
Defects in closure of embryonic fissure and invagination of optic vesicle results in varied clinical presentation of microphthalmos with cyst. In our study, three patients had microphthalmos with cyst in one of their orbits.
Agrawal P, Kumar Hemant
doaj  

Mandibulofacial dysostosis : a case report [PDF]

, 1973
A case of the mandibulofacial dysostosia at the age of 5 months is reported. All the main features described in the syndrome are present in this case. Though the Mandibulo-Facial Dysostosis is a relatively rare congenital abnormality this case deserved ...
Damato, Francis Joseph, Griscti-Soler, A.   +1 more
core  

Phenotyping the potential antagonistic knock-out of the chromatin remodeler EZH2 and CHD7 in neural stem cells and the adult brain [PDF]

, 2020
CHARGE syndrome describes a combination of severe developmental defects including, among other things, a delayed or retarded mental development, sometimes combined with a variety of psychological symptoms. Especially, the molecular mechanisms behind this
Jansen, Malin Insa
core   +1 more source

Mosaic KRAS Mutation in Schimmelpenning–Feuerstein–Mims Syndrome With Overlapping Oculoectodermal Syndrome and Encephalocraniocutaneous Lipomatosis Features

Pediatric Dermatology, Volume 42, Issue 3, Page 591-595, May/June 2025.
ABSTRACT We report a patient with clinically confirmed Schimmelpenning–Feuerstein–Mims (SFM) syndrome but many overlapping features with oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL). Whole exome sequencing revealed a mosaic KRAS c.436G>A, p.(Ala146Thr) mutation, previously identified in three OES and ECCL patients ...
Hyvönen Hanna, Kettunen Kaisa, Avela Kristiina, Kivirikko Sirpa, Jeskanen Leila, Suominen Sinikka, Salminen Päivi, Hannula‐Jouppi Katariina   +7 more
wiley   +1 more source

Healthcare, school and daily life experiences of patients with microphthalmia or anophthalmia and their parents

Acta Paediatrica, Volume 114, Issue 3, Page 619-627, March 2025.
Abstract Aim This qualitative study explored the lived experiences of the patients with microphthalmia and anophthalmia and their parents, focusing on the healthcare, school settings and daily life challenges to improve patient management. Methods In‐depth interviews were conducted in Stockholm, Sweden, from October 2022 to June 2023. Participants were
Evin Chireh, Jonas Nordquist, Marita Andersson Grönlund, Kristina Teär Fahnehjelm   +3 more
wiley   +1 more source

Chromosome 1p31.1 Deletion: A Case With Developmental Delay, Hypotonia, Cryptorchidism, Abnormal Oral Frenulum, and Feet Deformity

Case Reports in Genetics, Volume 2025, Issue 1, 2025.
Deletions within the chromosomal locus 1p31.1 are rare, with only a limited number of documented cases. The typical clinical presentation includes intellectual disability, failure to thrive, and craniofacial abnormalities. Some cases may also present with cardiac, gastrointestinal, and genitourinary malformations.
Tatiana Mikhailova, Ria Garg, Irfan Ahmad   +2 more
wiley   +1 more source

Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe [PDF]

Meckel-Gruber Syndrome is a rare autosomal recessive lethal ciliopathy characterized by the triad of cystic renal dysplasia, occipital encephalocele and postaxial polydactyly.
Addor, Marie-Claude, Barisic, Ingeborg, Bergman, Jorieke Eh, Boban, Ljubica, Braz, Paula, Calzolari, Elisa, Dolk, Helen, Draper, Elizabeth S, Garne, Ester, Haeusler, Martin, Khoshnood, Babak, Klungsoyr, Kari, Loane, Maria, Pierini, Anna, Queisser-Luft, Annette, Rankin, Judith, Rissmann, Rinke, Verellen-Dumoulin, Christine, Wellesley, Diana   +18 more
core   +1 more source

The hidden eye: A case of cryptophthalmos

Philippine Journal of Ophthalmology, 2004
Objective: To report a case of cryptophthalmos. Methods: This is a report of a case of cryptophthalmos seen at the University of the Philippines-Philippine General Hospital (UP-PGH).
Raquel M. Joaquin-Quino, MD, Leonardo Mangubat, MD, Ruben Lim Bon Siong, MD   +2 more
doaj  

Ocular motility disturbances (Duane retraction syndrome and double elevator palsy) with congenital heart disease, a rare association with Goldenhar syndrome-A case report

Indian Journal of Ophthalmology, 1992
This report is a case of a 4 year old male child who was admitted for meningitis. On clinical examination he was diagnosed as a case of oculo-suriculo-vertebral dysplasia with congenital heart disease, i.e., tetralogy of Fallots besides his presenting ...
Verma Manju, Faridi MMA
doaj