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There is no single cause of septo-optic dysplasia.
Septo-optic dysplasia has been linked to young maternal age.
Other mutations have been reported to cause septo-optic dysplasia and multisystem disorders.
It is rare for siblings to present with identical features of the septo-optic dysplasia spectrum.
Many patients present with additional developmental defects outside the Septo-optic dysplasia triad.
Specifically, in utero cocaine exposure has been linked to the development of septo-optic dysplasia.
Septo-optic dysplasia is one of the most common forms of congenital growth hormone deficiency.
Septo-optic dysplasia is a highly variable disorder.
Septo-optic dysplasia is a developmental disorder resulting from a defect of normal embryological development.
He was found to be blind, having a condition known as septo-optic dysplasia, meaning that the development of his optic nerve was unpredictable.
Valproate toxicity in utero has been implicated as a possible etiology of septo-optic dysplasia.
He was born with a cerebral Arachnoid cyst and with a form of blindness called Septo-optic dysplasia.
Septo-optic dysplasia (de Morsier syndrome)
ONH is often referred to as septo-optic dysplasia, a term that refers to agenesis of the septum pellucidum.
Mutations in the HESX1 gene are associated with some cases of septo-optic dysplasia or Pickardt-Fahlbusch syndrome.
Absence of the septum pellucidum or corpus callosum, caused by mutations in the HESX1 gene, is associated with septo-optic dysplasia.
Neuroradiologically, intracranial malformations associated with septo-optic dysplasia include agenesis of the septum pellucidum, schizencephaly, and lobar holoprosencephaly.
Many times, de Morsier's Syndrome or septo-optic dysplasia (SOD) is associated with ONH, however, it is possible to have ONH without any additional issues like SOD.
Some syndromes that frequently include ACC are Aicardi syndrome, Andermann syndrome, Shapiro syndrome, acrocallosal syndrome, septo-optic dysplasia (optic nerve hypoplasia), Mowat-Wilson syndrome and Menkes syndrome.
When his son Archie was born with a rare brain condition Septo-optic dysplasia, he underwent several operations and spent many months in hospital, Kennedy then decided a change was needed and lost 35 kg to better himself for his family.
Septo-optic dysplasia (de Morsier syndrome)
Słownik medyczny