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Lethal hypophosphatasia, spur type: case report and fetopathological study
N Vandevijver1, C E De Die-Smulders, J P Offermans
1Department of Pathology, Academic Hospital Maastricht, The Netherlands.
Genetic Counseling (Geneva, Switzerland)
|October 20, 1998
Summary
Lethal hypophosphatasia (HP) is a skeletal disorder caused by alkaline phosphatase deficiency. This study identifies two distinct types of limb "spurs" in a prenatal case, aiding in diagnosis.
Area of Science:
- Medical Genetics
- Skeletal Dysplasias
- Biochemistry
Background:
- Hypophosphatasia (HP) is a rare inherited metabolic disorder.
- It is characterized by deficient activity of tissue-nonspecific alkaline phosphatase (TNSALP).
- This deficiency leads to severe skeletal undermineralization.
Observation:
- A prenatal case of lethal hypophosphatasia was diagnosed.
- Clinical, radiological, and pathological findings were analyzed.
- Limb spurs were identified as a key diagnostic feature.
Findings:
- Two distinct types of limb spurs were observed in hypophosphatasia: midshaft type and joint type.
- These spurs are pathognomonic for HP, distinguishing it from other skeletal dysplasias.
- The study provides a detailed fetopathological examination.
Implications:
- Accurate prenatal diagnosis of lethal hypophosphatasia is crucial.
- Distinguishing spur types can improve differential diagnosis in skeletal dysplasias.
- Understanding these features aids in genetic counseling and management.