SPASTIC QUADRIPLEGIA IN WESTERN AUSTRALIA. II: PEDIGRESS AND FAMILY PATTERNS OF BIRTHWEIGHT AND GESTATIONAL AGE

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Abstract
Pedigrees were obtained for all 74 index children and for three controls for each case. Recurrence of similar spastic quadriplegic phenotypes occurred in two families. A karyotype of 46,XY,dup(13)(q14q34), resulting in a partial trisomy 13, was found in another case. Rates of miscarriages and stillbirths plus neonatal deaths were higher among siblings of index cases than in siblings of birth-year controls, but were similar to siblings of birthweight controls. Average birthweights and gestational ages were lower in index cases than in birth-year controls. Children with spastic quadriplegia had significantly lower birthweights and gestational ages than their siblings. However, they also tended to come from families with a pattern of low birthweight and preterm delivery. The differences between families remained after controlling for factors affecting birthweight.