Neonatal form of hypophosphatasia. A case report
Hypophosphatasia is a rare (1/100,000), inherited inborn error of metabolism characterized by low serum and tissue alkaline phosphatase activities resulting in skeletal abnormalities. Four clinical forms are recognized depending on the age of diagnosis. Since treatment is not available and th...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
1995-10-01
|
| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/3594 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| Summary: | Hypophosphatasia is a rare (1/100,000), inherited inborn error of metabolism characterized by low serum and tissue alkaline phosphatase activities resulting in skeletal abnormalities. Four clinical forms are recognized depending on the age of diagnosis. Since treatment is not available and the prognosis is always lethal, detection of index cases and prenatal diagnosis is subsequent pregnancies is very important. Here we report a case with the most severe form of hypophosphatasia associated with lung hypoplasia.
|
|---|---|
| ISSN: | 0041-4301 2791-6421 |