Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.ophtha.2007.02.019 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Nablus mask-like facial syndrome: Report of an atypical case with 8q21.3-q22.1 deletion.
Am J Med Genet A
December 2024
Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, "Ag. Sofia" Children's Hospital, Athens, Greece.
Nablus mask-like facial syndrome (NMLFS) is a rare condition characterized by unique facial features, initially described in a 4-year-old boy from Nablus, Palestine. These features include expressionless facial appearance, tight facial skin, blepharophimosis, sparse eyebrows, and a flat nose. Genetic studies have identified a deletion of 8q22.
View Article and Find Full Text PDFOutcome of silicone sling frontalis suspension in children with simple congenital and complex ptosis.
Can J Ophthalmol
August 2024
Division of Ophthalmology, Children's Hospital of Philadelphia and the Edwin and Fannie Gray Hall Center for Human Appearance, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA.
Objective: To compare the outcome of silicone sling frontalis suspension (FS) surgery in children with simple congenital ptosis and children with complex ptosis.
Design: A retrospective cohort study.
Participants: All pediatric patients who underwent silicone sling FS surgery between 2009 and 2020 at a single centre.
Fraser syndrome without cryptophthalmos: Two cases.
Eur J Med Genet
April 2020
CHU Lille, Clinique de Génétique, F-59000, Lille, France; Univ. Lille, RADEME, EA 7364, F-59000, Lille, France. Electronic address:
Fraser syndrome (MIM#219000) is an autosomal recessive disorder, characterized by the association of cryptophthtalmos, syndactyly of the four extremities, urinary tract abnormalities and laryngo-tracheal anomalies. This condition is due to homozygous or compound heterozygous mutations in the FRAS/FREM complex genes: FRAS1, FREM2 and GRIP1. Here we report two atypical cases of Fraser syndrome due to mutations in the FRAS1 gene without cryptophthalmos.
View Article and Find Full Text PDFThe Natural History of a Man With Ovotesticular 46,XX DSD Caused by a Novel 3-Mb 15q26.2 Deletion Containing Gene.
J Endocr Soc
November 2019
Department of Medicine, Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil.
Gonadal sex determination is a complex genetic process by which an embryonic primordium is driven to form an ovary or a testis, which requires a delicate dosage balance involving many genes. Disruption in this molecular pathway can lead to differences of sex development (DSD). Although some genetic mechanisms leading to 46,XY DSD have been elucidated, little is known about copy-number variation (CNV) causing testicular or ovotesticular 46,XX DSD.
View Article and Find Full Text PDFDual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance.
Am J Med Genet A
November 2018
Genetics Unit, MassGeneral Hospital for Children, Boston, Massachusetts.
Turner syndrome is a sex chromosome abnormality in which a female has a single X chromosome or structurally deficient second sex chromosome. The phenotypic spectrum is broad, and atypical features prompt discussion of whether the known features of Turner syndrome should be further expanded. With the advent of clinical whole exome sequencing, there has been increased realization that some patients with genetic disorders carry a second genetic disorder, leading us to hypothesize that a "dual diagnosis" may be more common than suspected for Turner syndrome.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!