Craniodiaphyseal dysplasia.

نویسندگان

  • I Kaitila
  • R E Stewart
  • E Landow
  • R Lachman
  • D L Rimoin
چکیده

Craniodiaphyseal dysplasia is a very severe bone dysplasia characterised by massive generalised hyperostosis and sclerosis, especially involving the skull and facial bones. Progressive bony encroachment upon cranial foramina leads to severe neurological impairment in childhood. In 1958, Joseph et all described a child with severe sclerosis of the skull and facial deformity, noted the similarity of features to a case reported previously by Halliday,2 and termed the condition progressive craniodiaphyseal dysplasia. At that time they considered it to be a variant of Camurati-Engelmann disease. Gorlin et a13 delineated the syndrome and cited published cases which had previously been described as cases of leontiasis ossea (craniofacial bony deformity leading to lion-like appearance). ' 2 4 5 In 1974, MacPherson6 described three cases of craniodiaphyseal dysplasia, pointed out the variable manifestations of the condition, and emphasised the overlap in phenotype of CDD with some of the other craniotubular dysplasias and hyperostoses. He concluded that "perhaps the name craniodiaphyseal dysplasia should refer to a group of diseases". CDD remains a rare disorder with fewer than 20 case reports published. This review is based on previously published cases and one new unreported case (table).

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عنوان ژورنال:
  • Birth defects original article series

دوره 11 6  شماره 

صفحات  -

تاریخ انتشار 1975