PATHOLOGICAL FEATURES IN THE DE LANGE SYNDROME
- 1 September 1969
- journal article
- Published by Wiley in Acta Paediatrica
- Vol. 58 (5) , 470-480
- https://doi.org/10.1111/j.1651-2227.1969.tb04748.x
Abstract
Summary: Two girls with Cornelia de Lange Syndrome, dying at the age of 4 weeks and 9 months respectively, are described.Published examples where necropsy was performed are reviewed and the congenital anomalies of internal organs are summarised.Although some neuropathological features probably result from arrest or retardation of maturation, there was evidence in the younger infant of associated breakdown of myelin.Morphological changes of pituitary, thyroid and adrenal glands, are frequent but no link with hypothalamic lesions has been found.Keywords
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