Optic hypoplasia with pituitary dwarfism (Kaplan-Grumbach-Hoyt syndrome, or DeMorsier syndrome).

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Optic hypoplasia with pituitary dwarfism (Kaplan-Grumbach-Hoyt syndrome, or DeMorsier syndrome).

A case of a 14-year-old boy with optic hypoplasia and pituitary dwarfism was presented. Eye Examination showed typical hypoplasia of the left optic nerve and mild hypoplasia of the right optic nerve. Except for dwarfism and nystagmus, the appearance of the patient was not unusual. Computed tomography revealed an enlargement of the suprachiasmatic cistern, and the presence of the septum pellucid...

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The syndrome of optic nerve hypoplasia.

The congenital malformation known as optic nerve hypoplasia (ONH) has been recognized in the past 30 years as an epidemic cause of congenital blindness. It was believed to occur either as an isolated anomaly or as a component of the syndrome of septo-optic dysplasia, which has evolved to include midline brain malformations and hypopituitarism. Evidence now suggests that ONH infrequently occurs ...

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A Case Study of Camptomelic Dwarfism Syndrome

Camptomelic dwarfism or dysplas1a is a rare syndrome in which· short stature is associated with angulation and bowing of the lower limb Long bones, hypoplasia of the facial bones and scapula and various other skeletal and respiratory and nervous system. A 9 day old girl with this syndrome was admitted in our peiatric Department, Loghman Hospital medical center because of Dwarfism and hypotonia....

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Pituitary hypoplasia and respiratory distress syndrome in Prop1 knockout mice.

Mutations in Prophet of PIT1 (Prop1), one of several homeodomain transcription factors that are required for the development of the anterior pituitary gland, are the predominant cause of MPHD (multiple pituitary hormone deficiency) in humans. We show that deletion of Prop1 in mice causes severe pituitary hypoplasia with failure of the entire Pit1 lineage and delayed gonadotrope development. The...

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ژورنال

عنوان ژورنال: Endocrinologia Japonica

سال: 1983

ISSN: 0013-7219,2185-6370

DOI: 10.1507/endocrj1954.30.7