Dwarfism with retinal atrophy and deafness

Abstract

The two children with this dystrophy, a girl aged seven years and eleven months and a boy aged six years and three months were admitted to the Hospital for Sick Children, Great Ormond Street, in June, 1935.The parents, who are natives of north Hampshire, are of English race, normal and not blood-relations, and they have been unable to trace the occurrence of the condition in their ascendants or collaterals.Dr. N. F. Kendall, under whose care they were before admission, has ascertained that before marriage the parents lived sixteen miles apart, and as their families have lived in the neighbourhood for a long time it is not unlikely that there has been inter- marriage between them some generations back.There are four older children, three girls, aged eighteen, fifteen, and twelve years respectively, and a boy, aged ten, and one younger, a boy aged three years, who is taller than either of the affected ones.The dwarfs are so much alike in facial appearance, build and disposition, that the same general description will suffice (fig. 1, 2).Both have small heads, that of the girl being the smaller (fig.3), but, although the vault of the skull is flattened and the circumference small, the general shape is normal, and neither child has the receding fore- head characteristic of microcephaly.Their faces are small with sunken eyes and prominent superior maxillae.They are slightly built with short, slender trunks and unduly long legs, and their feet and hands are too large in proportion.The third and fourth fingers of their hands are deviated a little towards the mesial line.Both are active and their movements are quick and bird-like.They are friendly and playful, invariably good tempered, and laugh with obvious on July 24,