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Case report: lethal multiple pterygium syndrome
David S Brink1, Atchawee Luisiri, Dorothy K Grange
1Saint Louis University School of Medicine, Department of Pathology, SSM Cardinal Glennon Children's Hospital, St Louis, Missouri 63104-1095, USA. brinkds@slu.edu
Abstract:
We report a case of lethal multiple pterygium syndrome (LMPS). Intrauterine fetal demise was diagnosed at 31 weeks' estimated gestational age. Subsequent fetopsy established the diagnosis of LMPS. Macroscopic, microscopic, and radiographic findings in the case are discussed, and LMPS is reviewed.
Insights
Lethal multiple pterygium syndrome (LMPS) is a rare condition. This case report details a diagnosis of LMPS via fetopsy following intrauterine fetal demise at 31 weeks.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pathology
Background:
- Lethal multiple pterygium syndrome (LMPS) is a severe, rare congenital disorder characterized by multiple pterygia (skin webbing).
- LMPS is often lethal in the perinatal period, with intrauterine fetal demise being a common outcome.
Observation:
- This report details a specific case diagnosed with LMPS.
- Intrauterine fetal demise was identified at 31 weeks' estimated gestational age.
- A subsequent fetopsy was performed to confirm the diagnosis.
Findings:
- The fetopsy established a definitive diagnosis of lethal multiple pterygium syndrome.
- Detailed macroscopic, microscopic, and radiographic findings from the case are presented.
- The review discusses the characteristic features of LMPS.
Implications:
- This case contributes to the understanding of LMPS presentation and diagnosis.
- Highlights the importance of fetopsy in diagnosing rare fetal conditions.
- Aids in the clinical recognition and genetic counseling for LMPS.
