ReviewCongenital rickets due to vitamin D deficiency in the mothers

- We describe 25 infants with objective evidence of rickets in the first two weeks after birth.
- In 24 of these there was good evidence of vitamin D deficiency in the mothers.
- We conclude that maternal deficiency may lead to overt bone disease from before birth.
- Maternal deficiency probably also leads to impaired bone quality in postnatal life.
- We emphasise the importance of ensuring adequate vitamin D nutrition in pregnancy.

SummaryBackground & aimsWe wished to review all published reports of congenital rickets to identify the causes and characteristics.Methods25 cases were identified in 19 published reports in which there was radiological and/or histological evidence of rickets in the first two weeks after birth. Cases of rickets associated with maternal renal failure were excluded as were infants born at less than 32 weeks gestation.ResultsThere was evidence of maternal deficiency in 24 of these cases. In 16 cases the diagnosis of the rickets led to the identification of symptomatic osteomalacia in the mothers. Of the 12 mothers who had assays for serum 25-hydroxyvitamin D (25OHD) 11 had values less than 10 ng/mL. Presentations in the infants included craniotabes, wide skull sutures, rachitic rosaries, enlargement of the wrists, tetany and convulsions. In two cases rickets had been suspected from antenatal X-rays. In five cases fractures were found at the time of initial presentation. Of the 16 infants with serum calcium assays 15 had values lower than 8.8 mg/dL. Of 13 infants who had serum alkaline phosphatase assays 12 had abnormally high levels. Of the seven infants in whom serum 25OHD was measured before treatment, all had values less than 10 ng/mL.ConclusionsThese reports provide strong support for the view that maternal deficiency leads to overt bone disease from before birth. Maternal deficiency probably also leads to impairment of bone quality in postnatal life. The importance of ensuring adequate vitamin D nutrition in pregnancy is emphasised.