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 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.
Tekinalp
G
G
Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Gürakan
B
B
Yalçin
S
S
Cağlar
M
M
Ergin
H
H
D000015:Abnormalities, Multiple; D017668:Age of Onset; D000469:Alkaline Phosphatase / Q000172:deficiency; D003241:Consanguinity; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007014:Hypophosphatasia / Q000097:blood / Q000000981:diagnostic imaging / Q000503:physiopathology; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities; D011859:Radiography
D000469:Alkaline Phosphatase