Request PDF on ResearchGate | On Nov 1, , S. Estefanía and others published Displasia septo-óptica. Septo-optic dysplasia (SOD), (de Morsier syndrome) is a rare congenital malformation syndrome featuring underdevelopment of the optic nerve, pituitary gland. Displasia septo-óptica o síndrome DeMorsier: Presentación de 1 caso y revisión bibliográfica. Rev Cubana Pediatr [online]. , vol, n.4, pp.

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Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation.

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Optic nerve hypoplasia is mandatory for the diagnosis and results in a variable degree of decreased seppto. The electroencephalogram ECG is normal in half of the cases 19, Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum Dattani et al.

Eur J Pediatr ; The clinical and radiological features are shown on the Tables 1 and 2respectively. Three patients also presented arachnoid cysts case sspto, 2 and 4. It is generally bilateral but it can be asymmetrical or unilateral 6.

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Horm Res ;58 Suppl 3: Schweiz Arch Neurol Psychiatr. Septo-optic dysplasia SODalso referred to as de Morsier syndrome, is a rare congenital condition, characterized by two of the classic triad features: Webb and Dattani reviewed septooptic dysplasia, noting that there is a wide variation in the severity of the clinical features found and in their association with other diagnoses, which follows no clear pattern.


Case 3 Case 3. The average of Z score for stature at the time of admission in the endocrinology department was of The mother was years-old at delivery and denied exposure to alcohol or drugs. When any two of these factors are present, the condition dispoasia defined as an incomplete form of SOD.

TEXT A number sign is used with this entry because of evidence that septooptic dysplasia can be caused by mutation in the homeobox gene HESX1 on chromosome 3p Br J Ophthalmol ; Log in Sign up. The syndrome of hypopituitary dwarfism, hypoplasia of optic nerves and malformation displaia prosencephalon: Magnetic resonance imaging revealed absence of the septum pellucidum Figure 2hypoplasia of the optic nerves Figure 3 and chiasm.

OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine.

Hydranencephaly or lack of formation of brain can be found in extreme variants. Four out of five cases presented developmental delay. Generalized hypotonia of axial predominance with osteotendinous reflexes, horizontal nystagmus, convergent disolasia, absence of visuopalpebral reflex and, bilaterally, in the fundus of the eye small papillae with double contour image.

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He subsequently developed profound but transient hypocalcemia which responded to calcium and vitamin D supplements. Genetic testing may also be pursued. Retrieved from ” https: We observed that 4 of the 5 cases have endocrine disfunction and this is probably a selection bias, since the patients were referred to our outpatient clinic due to short stature of possible endocrine causes.

Septo-optic dysplasia – Wikipedia

Versions were normal and rotatory nystagmus was present. Our patient’s intelligence was normal.

Schweizer Arch Neurol Psychiatr ; This association is used to define two forms of the condition 1, Optic nerve hypoplasia and growth hormone deficiency: Pituitary hypoplasia manifests itself iptica different degrees of hormone deficiency, from a single hormone deficit to panhypopituitarism 4,5,7,11,19,24, Our cohort is of 5 patients referred to the Pediatric Endocrinology Department, being two from Neurology and one from Ophthalmology.

Evidence for possible Mendelian inheritance of septo-optic dysplasia. Case 4 has an empty sella and the other three cases 1, 3 and 5 present hypoplastic dosplasia pituitary.