Neonatal form of hypophosphatasia. A case report
Tekinalp, G.; Gürakan, B.; Yalçin, S.; Cağlar, M.; Ergin, H.
Turkish Journal of Pediatrics 37(4): 421-424
1995
ISSN/ISBN: 0041-4301 PMID: 8560613 Document Number: 444627
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.