Related Experiment Video
Updated: Mar 12, 2026
Author Spotlight: Anterior HR-OCT as a Non-Invasive Tool for Characterizing Ocular Surface Squamous Neoplasia
Published on: August 9, 2024
Lethal multiple pterygium syndrome
Tulika Joshi1, Nazia Nagori Noor1, Moolraj Kural1
1Department of Obstetrics and Gynaecology, Index Medical College Hospital and Research Center, Indore, Madhya Pradesh, India.
Abstract:
The multiple pterygium syndrome is consist of wide range of fetal malformations which have a genetic linkage. A defect in embryonic acetylcholine receptor which can be inherited as autosomal recessive, autosomal dominant, or X-linked fashion is the cause of this syndrome. We present a sporadic case of lethal multiple pterygium syndrome.
Insights
Multiple pterygium syndrome, a group of fetal malformations, stems from embryonic acetylcholine receptor defects. This report details a rare, lethal sporadic case of this genetic disorder.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Multiple pterygium syndrome (MPS) is a rare congenital disorder characterized by webbing of skin folds at multiple joints.
- The syndrome is genetically heterogeneous, with defects in the embryonic acetylcholine receptor implicated in its pathogenesis.
- Inheritance patterns can be autosomal recessive, autosomal dominant, or X-linked.
Observation:
- This study presents a sporadic case of lethal multiple pterygium syndrome.
- The case involves a fetus exhibiting severe malformations consistent with MPS.
- Detailed pathological examination revealed significant developmental anomalies.
Findings:
- The observed malformations in this sporadic case align with known features of multiple pterygium syndrome.
- Genetic analysis, if performed, would be crucial to identify specific acetylcholine receptor gene mutations.
- The lethal outcome highlights the severe end of the phenotypic spectrum for MPS.
Implications:
- This case underscores the importance of recognizing the diverse presentations of multiple pterygium syndrome.
- Understanding the genetic basis of acetylcholine receptor dysfunction is critical for diagnosis and potential future therapies.
- Further research into sporadic cases can elucidate novel genetic factors and pathogenic mechanisms in MPS.
