Related Experiment Video
Updated: Jul 8, 2026
09:26
Quantification of Orofacial Phenotypes in Xenopus
Published on: November 6, 2014
Cleft lip and palate with ectopia lentis et pupillae
Reham I Sha'ban1, Wafa M Asfour
1Department of Ophthalmology, King Hussein Medical Center, Amman, Jordan.
Saudi Medical Journal
|August 27, 2003
Summary
A rare case of ectopia lentis et pupillae was observed in a child with bilateral cleft lip and palate. This presentation highlights a previously unreported association between these conditions.
Area of Science:
- Ophthalmology
- Genetics
- Pediatric Medicine
Background:
- Bilateral cleft lip and palate are common congenital conditions.
- Ectopia lentis et pupillae is a rare ocular abnormality involving lens and pupil displacement.
Observation:
- A 7-year-old male child presented with ectopia lentis et pupillae.
- The child had a documented history of bilateral cleft lip and palate.
Findings:
- This case represents a potential new association between cleft lip and palate and ectopia lentis et pupillae.
- No prior literature has reported this specific co-occurrence.
Implications:
- Further research is warranted to investigate the genetic or developmental pathways potentially linking these conditions.
- This finding may inform clinical evaluation of pediatric patients with cleft lip and palate.
- Understanding this association could lead to earlier diagnosis and management of ocular abnormalities in affected children.
Related Concept Videos
01:33Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
01:20Muscles of the Eye
The muscles of the eye are sophisticated structures that control eye movement and focus, allowing for the precise and rapid adjustments necessary for vision. The human eye is controlled by ten muscles — six extraocular muscles, three intraocular muscles, and one primary eyelid retractor muscle.
Extraocular Muscles
The six extraocular muscles surround the eyeball and control its movements. They are responsible for a wide range of eye motions, including looking up, down, left, right, and rotating...
Extraocular Muscles
The six extraocular muscles surround the eyeball and control its movements. They are responsible for a wide range of eye motions, including looking up, down, left, right, and rotating...
01:22Photoreceptors and Visual Pathways
At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category, whereas...