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- Title
PERINATAL LETHAL FORM OF HYPOPHOSPHATASIA.
- Authors
Atasay, Begüm; Günlemez, Ayla; Kizialateš, Sevin Ünal
- Abstract
Hypophosphatasia is a rare bone disorder characterised by low or absent levels of the serum and tissue non-specific alkaline phosphatase necessary for normal bone mineralisation. The severe infantile form of the disease is autosomal-recessively inherited and is usually lethal in the neonatal period. We report a neonate with congenital hypophosphatasia in which prenatal diagnosis could not be carried out, in spite of the termination of the mothers former pregnancy due to abnormal skeletal development. This report indicates the importance of the index case and the need for more careful prenatal evaluation of subsequent pregnancies.
- Subjects
HYPOPHOSPHATASIA; PHOSPHORUS metabolism disorders; ALKALINE phosphatase; PREGNANCY; HUMAN abnormalities
- Publication
Journal of Ankara Medical School, 2002, Vol 24, Issue 1, p35
- ISSN
1300-5464
- Publication type
Article