Body proportions in Fanconi anemia heterozygotes.

To study the anthropometric ratios in parents (heterozygotes) of children with Fanconi anemia. The study was carried out in the Department of Hematology, Institute of Child Health & Hospital for Children, Chennai. Parents of children with Fanconi anemia were the subjects of the study. Applying standard instruments and methods, various body measurements were recorded. 31 fathers and 37 mothers were included in the study. A hundred male and female controls of the same ethnic group were also studied for the same parameters. The ratios were calculated and statistically analyzed. It was observed that fathers (male heterozygotes) had shorter forearms, the ratio of upper arm: forearm was significantly increased compared to male controls. In mothers (female heterozygotes) the inter-pupillary distance was increased, the ratio of head circumference to inter-pupillary distance was decreased compared to female controls.

Pregnancy-exaggerated galactosemia and congenital cataracts.

One child in a family and two children in another family had galactosemia and congenital cataract. Two of them had total soft cataracts while in one, cataract was less soft. In addition, they had mild lactosuria. The mothers of the affected children had significant lactosuria and mild galactosuria without cataracts. Fathers did not have galactosuria or lactosuria. Clinically unaffected siblings in one family had mild galactosuria and lactosuria. Pregnancy-exaggerated galactosemia was suspected in these two mothers who gave birth to children with congenital cataract. As an extension of this work, 5001 pregnant women were screened for galactose in urine just before the delivery of babies. Mild galactosuria was present in 54 (1.08%). Three children had congenital cataract and one had changes in posterior pole and cornea. Restriction of lactose by reducing intake of milk and milk products during pregnancy by mothers with galactosuria is recommended to avoid the birth of children with congenital cataract.