septooptic dysplasia

sep·to·op·tic dys·pla·si·a

[MIM*182230]

congenital optic nerve hypoplasia associated with midline cerebral anomalies.

septo optic dysplasia

A rare autosomal recessive condition (OMIM:182230) characterised by optic nerve hypoplasia, absence of the corpus callosum, and hypoplasia of the pituitary gland with panhypopopituitarism.

Molecular pathology
Defects in HESX1, a DNA-binding transcription factor required for the normal development of the forebrain, eyes and other anterior structures, cause septo optic dysplasia.

sep·to·op·tic dys·pla·si·a

(sep'tō-op'tik dis-plā'zē-ă)

Congenital, bilateral optic nerve hypoplasia associated with midline cerebral anomalies.
Synonym(s): de Morsier syndrome.

de Morsier,

G., 20th century Swiss neurologist.

de Morsier syndrome - congenital optic nerve hypoplasia associated with midline cerebral anomalies. Synonym(s): septooptic dysplasia

sep·to·op·tic dys·pla·si·a

(sep'tō-op'tik dis-plā'zē-ă) [MIM*182230]

Congenital optic nerve hypoplasia associated with midline cerebral anomalies.

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References in periodicals archive ?

The specific diagnosis of those among the nonexposed group were congenital malformation of corpus callosum (9%; 81/943), holoprosencephaly (24%; 225/943), and septooptic dysplasia (0.6%; 6/943).

Symptomatic Dengue during Pregnancy and Congenital Neurologic Malformations

In the neonatal period it may be associated with midline brain anatomic abnormalities such as septooptic dysplasia with agenesis of the corpus callosum, Kabuki syndrome, holoprosencephaly, and familial pituitary hypoplasia with absent stalk [1-4].

Use of Chlorothiazide in the Management of Central Diabetes Insipidus in Early Infancy

The anatomical recognition of this variant becomes important for the occurrence of saccular aneurysms, relatively common (13-71%), associated malformations (dysgenesis of the corpus callosum, lobar holoprosencephaly, septooptic dysplasia, porencephalic cysts, and arteriovenous malformations), and presence of bifrontal infarctions in case of occlusion [1].

Thrombosis of the Azygos Anterior Cerebral Artery

The patient was a 17-year-old boy with hypopituitarism, autism, and a history of septooptic dysplasia with whom communication was difficult.

Valgus Slipped Capital Femoral Epiphysis in Patient with Hypopituitarism

HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.

Septo-optic dysplasia: a case report/Septo-optik displazi: olgu sunumu

Harvey also has attention deficit hyperactivity disorder, autism and septooptic dysplasia, which causes blindness.

'I have to be cruel to be kind.. Harvey's illness means he'll just eat and eat. I've had to padlock the kitchen door now' katie price: my challenge bringing up disabled child

His Twitter account also received a barrage of negative comments, with users asking: "What the f*** have you done to that poor kid!?" Harvey was born with septooptic dysplasia, which has left him with residual vision, allowing him to see only some shapes and colours.

WOULD YOU DO THIS TO A NINE-YEAR-OLD? Jordan hits back over son's new haircut

He suffers from a septooptic dysplasia which means he is partially blind and requires around-the-clock care.