Clinical, endocrinological and computed tomographic features of three patients with unusual manifestations or complications of craniofacial involvement of fibrous dysplasia are presented. One patient with polyostotic fibrous dysplasia presented in late pregnancy with acute onset of bilateral optic nerve compression and blindness secondary to a rapidly expanding mass of fibrous dysplasia tissue ...

Ninety-nine articles published in professional journals related to septa-optic dysplasia (SOD) or the education of young blind children were reviewed by a special education teacher and parent of a blind one year old boy diagnosed with the SOD. The articles were classified by publication type (e.g., research studies, descriptive articles, guides, position papers, reviews of literature). Fifty-th...

De-Morsier’s syndrome or Septo-optic dysplasia is a rare medical disorder which is strongly associated with CNS, Ophthalmological manifestations. However, in minority of patients, this condition presents with olfactory tract hypoplasia. The CNS abnormalities include abnormalities of the hypothalamicpituitary axis, hypoplasia of the optic nerve. Often, absence of septum pellucidum is seen along ...

BACKGROUND AND PURPOSE Ectopic posterior pituitary lobe often occurs in children with growth hormone deficiency and is part of the spectrum associated with septo-optic dysplasia. Some cases of septo-optic dysplasia are caused by homozygous mutations in the homeobox gene HESX1, whereas heterozygous mutations are associated with milder phenotypes. To date, HESX1 is the only gene associated with e...