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A lethal multiple pterygium syndrome with apparent X-linked recessive inheritance
J L Tolmie1, A Patrick, J R Yates
1Duncan Guthrie Institute of Medical Genetics, Royal Hospital for Sick Children, Yorkhill, Glasgow, Scotland.
American Journal of Medical Genetics
|August 1, 1987
Summary
Lethal multiple pterygium syndrome (LMPS) in three male fetuses suggests X-linked recessive inheritance. This rare genetic disorder presents with severe congenital anomalies, impacting multiple body systems.
Area of Science:
- Medical Genetics
- Developmental Biology
- Teratology
Background:
- Lethal multiple pterygium syndrome (LMPS) is a rare, severe congenital disorder characterized by multiple joint contractures and pterygia.
- Genetic factors are implicated in LMPS, but specific inheritance patterns are not fully elucidated in all cases.
Observation:
- Three male fetuses from a single family presented with a constellation of severe anomalies consistent with LMPS.
- Affected fetuses exhibited cystic hygroma, cleft palate, webbing of the neck, elbows, and thighs, and skeletal abnormalities including long bone hypoplasia and hip dislocations.
Findings:
- Radiographic analysis revealed significant skeletal malformations, including broad ribs, hypoplastic long bones, and abnormal jaw and hip development.
- The pattern of affected males in successive generations, with affected mothers being related through the female line, strongly suggests X-linked recessive inheritance.
Implications:
- This family's case provides compelling evidence for X-linked recessive inheritance of LMPS, crucial for genetic counseling.
- Understanding the inheritance pattern aids in prenatal diagnosis and family planning for families with a history of LMPS.
- Further research into the specific genetic mutations responsible for X-linked LMPS is warranted.