Results 61 to 70 of about 13,016 (165)
Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects
American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll +2 more
wiley +1 more source
Clinical Case Reports, Volume 14, Issue 9, September 2026.ABSTRACT PTCD should be considered in children with developmental delay and sensorineural hearing loss. MRI is crucial for identifying the characteristic dorsal “tegmental cap” and associated hindbrain anomalies. Vestibulocochlear nerve aplasia may explain severe hearing impairment in PTCD.
Khawar Bilal +6 more
wiley +1 more source
Retinal Detachment in a Patient with Microphthalmos and Choroidal Coloboma
, 2008 We report a rare case of retinal detachment with microphthalmos and choroidal coloboma. A 28-year-old man who had suffered from poor vision since early childhood was examined because of progressive deterioration of vision in his right eye. Examination of
陳慕師;何子昌;張慶忠;蔡紫薰;侯平康 +1 more
core
Delhi Journal of Ophthalmology, 2014 Purpose: To demonstrate three techniques of repair of iris defects in cases with iridodialysis, post surgical coloboma and post-traumatic mydriasis. Methods: Video-based description of repair of three cases of iris defects, highlighting the technique and
Tushar Agarwal, Tarun Arora
doaj +1 more source
Clinical Case Reports, Volume 14, Issue 9, September 2026.ABSTRACT Patau syndrome (trisomy 13) is a life‐limiting chromosomal disorder with multiple congenital anomalies. We report a term male neonate with bilateral cleft lip and palate, aplasia cutis congenita, postaxial polydactyly, hypotonia, congenital heart disease, and presumed neonatal sepsis.
Sayed Hussain Amiri +4 more
wiley +1 more source
Retinal detachments associated with choroidal colobomas
Taiwan Journal of OphthalmologyTo summarize the characteristics of the retinal detachments (RDs) that are associated with choroidal colobomas that occur in pediatric and adult patients.
Makoto Inoue
doaj +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.Genomic profiling of four families with anophthalmia/microphthalmia‐associated copy number variations (CNVs) revealed marked phenotypic variability, including incomplete penetrance of OTX2‐related microphthalmia. These findings highlight the importance of phenotype‐driven interpretation of CNVs beyond standard pathogenicity scoring.
Dong Wu +7 more
wiley +1 more source
Late-Onset Subretinal Silicone Oil Migration through Optic Disc Coloboma
Case Reports in OphthalmologyIntroduction: This report describes a case of late onset subretinal silicone oil migration in an eye with congenital optic disc coloboma and its treatment.
Or Shmueli, Tareq Jaouni
doaj +1 more source
Ocular coloboma combined with cleft lip and palate: a case report
BMC Ophthalmology, 2020 Background Ocular coloboma is an excavation of ocular structures that occurs due to abnormal fusion of the embryonic optic fissure. Further, cleft lip/palate (CL/P), a congenital midline abnormality, is caused by a defect in the fusion of the frontonasal,
Yung Ju Yoo +3 more
doaj +1 more source
Prenatal magnetic resonance imaging of optic nerve head coloboma
, 2007 OBJECTIVE: Congenital optic nerve head coloboma represents an important cause of childhood visual impairment and blindness; it can be isolated or, more often, it can be associated with several syndromes.
F. Triulzi +7 more
core +3 more sources