Septo-optic dysplasia with growth hormone deficiency (De Morsier syndrome).

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Peripheral retinal nonperfusion in septo-optic dysplasia (de Morsier syndrome).

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Septo-optic dysplasia/de Morsier's syndrome

Septo-optic dysplasia (or de Morsier syndrome) is a congenital disorder characterised by anomalies in cerebral midline structures, optic nerve hypoplasia, and hormonal deficiencies. Diagnosis should be made early, due to the possibility of treating the hormonal disturbances. We describe here a case with decreased visual acuity, one-sided hemianopia, nystagmus und agenesis of the septum pellucid...

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Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia.

CONTEXT Kallmann syndrome (KS), combined pituitary hormone deficiency (CPHD), and septo-optic dysplasia (SOD) all result from development defects of the anterior midline in the human forebrain. OBJECTIVE The objective of the study was to investigate whether KS, CPHD, and SOD have shared genetic origins. DESIGN AND PARTICIPANTS A total of 103 patients with either CPHD (n = 35) or SOD (n = 68...

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Septo-optic Dysplasia

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Septo-optic Dysplasia

The SOD phenotype is highly heterogeneous and diagnosis is made in the presence of at least two of these three features. [5] Only about a third of patients have all three features but patients with any component of the syndrome should be screened for the other features too. The cause of SOD is unknown but viral infections, gestational diabetes, environmental teratogens, vascular or degenerative...

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ژورنال

عنوان ژورنال: Archives of Disease in Childhood

سال: 1972

ISSN: 0003-9888,1468-2044

DOI: 10.1136/adc.47.256.973