Related Experiment Videos
Noonan-like/multiple giant cell lesion syndrome
1Department of Oral Biology, Faculty of Dentistry, Dalhousie University, Halifax, Nova Scotia, Canada.
American Journal of Medical Genetics
|August 11, 1991
Summary
Noonan-like/multiple giant cell lesion syndrome presents with short stature, developmental delays, and distinctive facial features. Reviewing 14 cases highlights key manifestations and diagnostic challenges.
Area of Science:
- Genetics and rare diseases
- Pediatric endocrinology
- Skeletal dysplasias
Background:
- Noonan-like/multiple giant cell lesion syndrome is a rare genetic disorder.
- Characterized by a constellation of distinctive physical and developmental anomalies.
- Accurate diagnosis is often hindered by fragmented clinical information.
Observation:
- A case report of a patient with Noonan-like/multiple giant cell lesion syndrome.
- Review of 14 previously reported cases.
- Detailed documentation of clinical manifestations.
Findings:
- Key features include short stature, developmental delay, ocular hypertelorism, posteriorly angulated ears, pectus excavatum, and pulmonic stenosis.
- Multiple giant cell lesions in bones, joints, and soft tissues are a hallmark.
- Syndrome delineation is complicated by incomplete ascertainment across medical specialties.
Implications:
- Improved recognition and diagnosis of Noonan-like/multiple giant cell lesion syndrome.
- Enhanced understanding of the phenotypic spectrum.
- Facilitates earlier intervention and management for affected individuals.