DE LANGE SYNDROME A Study of Nine Examples

Summary A comprehensive study of 9 typical cases of de Lange syndrome revealed no pathognomonic marker but two helpful aids to the essentially clinical diagnosis: short thick first metacarpal bone and suggestive dermatoglyphs. The series includes an example with parental consanguinity; but the mode of inheritance remains uncertain. Endocrine investigations showed normal to high hypothalamic‐pituitary‐adrenal axis response, with six of the nine examples showing evidence of hypothyroidism on functional testing, secondary in four and primary in two. Abnormality within the hypothalamic area or affecting its connections with higher centres, perhaps as part of a diffuse brain pathology, could explain some of the findings in this syndrome.