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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Wales and Quarrell described a sister and brother from a consanguineous mating in whom septooptic dysplasia was present, sept mendelian inheritance. Stevens and Dobyns reported a boy with optic nerve hypoplasia, pituitary dysfunction, and MRI findings consistent with septooptic dysplasia, who also had multiple limb defects suggestive of amniotic bands. Septo-optic dysplasia SOD optiac, also referred to as de Morsier syndrome, is a rare congenital condition, characterized by two of the classic triad features: Of the 4 patients diagnosed by the endocrinologist, 2 also had a great delay in diagnosis due to a lack of knowledge about the syndrome by the specialists.
The female was born with dislocation of the hip and talipes equinovarus. One of the cases, although extensively monitored by a multidisciplinary team, never had been evaluated by an endocrinologist until the age of It is rare for siblings to present with identical features of the septo-optic dysplasia spectrum.
Physical examination revealed a cm-tall boy srpto normal findings at a general medical examination. Ophthalmologists and neurologists should be aware to the identification of any of the features of the syndrome, forwarding these patients early to the pediatric endocrinologist, since the pituitary deficiencies may be present since the neonatal period or can appear throughout life, originating permanent sequelae.
Pituitary hormone deficiency, combined, 3. Some additional modality dependent features may also be visible. Septo-optic dysplasia associated with see-saw nystagmus. HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. In utero exposure to cocaine and other street drugs can lead to septo-optic dysplasia.
Nonfamilial patients with either septooptic dysplasia patients or isolated pituitary dysfunction, optic nerve hypoplasia, or midline neurologic abnormalities patients originally screened by SSCP were rescreened by heteroduplex detection for mutations in the coding and regulatory regions of HESX1.
There is no recognised gender predilection. When nystagmus develops, it typically appears by 1—8 months of age, and usually indicates that there will be a significant degree of visual impairment, but the severity is difficult to predict in infancy.
In a study group comprising 55 optic nerve hypoplasia patients, Birkebaek et al. Case 4 Case 4.
Clinical Synopsis Toggle Dropdown. Neuroradiologically, intracranial malformations associated with septo-optic dysplasia include agenesis of the septum pellucidumschizencephalyand lobar holoprosencephaly.
Autoimmune polyendocrine syndrome type 1. We need long-term secure funding to provide you the information that you need at your fingertips.
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Our cohort is of 5 patients referred to the Pediatric Endocrinology Department, being two from Neurology and one from Ophthalmology. We did not observe any prenatal problems that usually are associated to SOD or ONH and only one patient had fetal distress, solved by cesarean surgery.
Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, eisplasia gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum Dattani et al. The clinical and radiological features are shown on the Tables 1 and 2respectively. Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient.
OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by aepto students in science and medicine. Holt—Oram syndrome Li—Fraumeni syndrome Ulnar—mammary syndrome.
Septo-optic dysplasia | Radiology Reference Article |
Septo-optic dysplasia with growth hormone deficiency de Morsier syndrome. A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships. Brain imaging of the affected sibs by Brickman et al.
Retrieved from ” https: Unfortunately, it is not free to produce. Seizures, developmental delay, and cerebral palsy are the most frequent neurologic associations.
OMIM Entry – # – SEPTOOPTIC DYSPLASIA
Congenital absence of septum dsplasia. In addition, direct sequencing of HESX1 was performed in patients with familial hypopituitarism from 66 unrelated families and in 11 patients born to consanguineous parents.
In three cases 3, 4 and 5the MRI detected the anomaly on the optic tract, with diffused hypoplasia of the chiasm and optic nerve. This investigation still has not been done. Pituitary hormone deficiency, combined, 6.
It could be a causative factor or only secondary to a common etiopathogenic process Opica patient was diagnosed by the genetics service case 1 and the others by the endocrinology clinic.
Valproate toxicity in utero has been implicated as a possible etiology of septo-optic dysplasia.