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The lethal multiple pterygium syndrome: a nosological approach
C E de Die-Smulders1, C T Schrander-Stumpel, J P Fryns
1Department of Clinical Genetics, University Hospital of Maastricht, State University of Limburg, The Netherlands.
Genetic Counseling (Geneva, Switzerland)
|January 1, 1990
Summary
Lethal Multiple Pterygium Syndrome (LMPS) is a severe genetic disorder characterized by multiple pterygia and often hydrops. This review analyzes 36 cases, proposing new classifications and discussing inheritance patterns.
Area of Science:
- Medical Genetics
- Developmental Biology
- Prenatal Diagnosis
Background:
- Lethal Multiple Pterygium Syndrome (LMPS) presents with severe congenital anomalies, including multiple pterygia, joint contractures, and hydrops fetalis.
- Diagnosis is often made prenatally via ultrasonography in the second trimester, or by stillbirth.
Purpose of the Study:
- To review published cases of LMPS to elucidate clinical features, pathogenesis, differential diagnosis, and inheritance patterns.
- To propose a classification system for LMPS based on clinical presentation and timing of diagnosis.
Main Methods:
- Systematic review of 36 published cases of Lethal Multiple Pterygium Syndrome.
- Analysis of clinical findings, including ultrasonographic, physical, and radiological data.
- Evaluation of reported inheritance patterns and genetic data.
Main Results:
- LMPS is characterized by lethality, multiple pterygia, joint contractures, hydrops/hygroma colli, specific facial dysmorphisms, and lung hypoplasia.
- Proposed classification includes "early type," "late type," and a distinct "Finnish type" of LMPS.
- An excess of male cases was observed, particularly in younger fetuses; while typically autosomal recessive, X-linked inheritance is considered for isolated male cases.
Conclusions:
- LMPS is a severe, often lethal, genetic condition with distinct clinical and potential genetic subtypes.
- Further research into the genetic basis and precise inheritance of LMPS subtypes is warranted.
- Accurate diagnosis and understanding of LMPS subtypes are crucial for genetic counseling and management.