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Literature DB >> 5076259

Septo-optic dysplasia.

Abstract

Four children are described who had hypoplastic optic nerves, absent septa pellucida, and various types of endocrinological dysfunction. The importance is stressed of recognizing this syndrome and of following up the growth of the patient, because now that human growth hormone is available the short stature of some blind children may be susceptible to treatment.

Entities: Disease Gene Species

Mesh：

Substances：
Growth Hormone

Year: 1972 PMID： 5076259 PMCID： PMC1786290 DOI： 10.1136/bmj.3.5830.811

Source DB: PubMed Journal: Br Med J ISSN： 0007-1447

6 in total

1. [Studies on malformation of cranio-encephalic sutures. III. Agenesis of the septum lucidum with malformation of the optic tract].

Authors: G DE MORSIER
Journal: Schweiz Arch Neurol Psychiatr Date: 1956

2. Functional tests of adrenal axis in children with measurement of plasma cortisol by competitive protein binding.

Authors: N D Barnes; J M Joseph; S M Atherden; B E Clayton
Journal: Arch Dis Child Date: 1972-02 Impact factor: 3.791

3. Septo-optic dysplasia and pituitary dwarfism.

Authors: W F Hoyt; S L Kaplan; M M Grumbach; J S Glaser
Journal: Lancet Date: 1970-04-25 Impact factor: 79.321

4. Neurophysiological approach to disorders of vision.

Authors: A Harden; G Pampiglione
Journal: Lancet Date: 1970-04-18 Impact factor: 79.321

5. Standards from birth to maturity for height, weight, height velocity, and weight velocity: British children, 1965. I.

Authors: J M Tanner; R H Whitehouse; M Takaishi
Journal: Arch Dis Child Date: 1966-10 Impact factor: 3.791

6. Effect of human growth hormone treatment for 1 to 7 years on growth of 100 children, with growth hormone deficiency, low birthweight, inherited smallness, Turner's syndrome, and other complaints.

Authors: J M Tanner; R H Whitehouse; P C Hughes; F P Vince
Journal: Arch Dis Child Date: 1971-12 Impact factor: 3.791

6 in total

11 in total

Review 1. HESX1 and Septo-Optic Dysplasia.

Authors: Mehul Tulsidas Dattani; Iain Caf Robinson
Journal: Rev Endocr Metab Disord Date: 2002-12 Impact factor: 6.514

10. Agenesis of the vermis with fusion of the cerebellar hemispheres, septo-optic dysplasia and associated anomalies. Report of a case.

Authors: J Michaud; E M Mizrahi; H Urich
Journal: Acta Neuropathol Date: 1982 Impact factor: 17.088

Septo-optic dysplasia.

1. [Studies on malformation of cranio-encephalic sutures. III. Agenesis of the septum lucidum with malformation of the optic tract].

2. Functional tests of adrenal axis in children with measurement of plasma cortisol by competitive protein binding.

3. Septo-optic dysplasia and pituitary dwarfism.

4. Neurophysiological approach to disorders of vision.

5. Standards from birth to maturity for height, weight, height velocity, and weight velocity: British children, 1965. I.

6. Effect of human growth hormone treatment for 1 to 7 years on growth of 100 children, with growth hormone deficiency, low birthweight, inherited smallness, Turner's syndrome, and other complaints.

Review 1. HESX1 and Septo-Optic Dysplasia.

2. [Visual defects and nystagmus].

3. Localising patterns of optic nerve hypoplasia--retina to occipital lobe.

4. Small optic discs.

5. Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.

6. Hypoplastic optic nerves and pituitary dysfunction. A spectrum of anatomical and endocrine abnormalities.

7. Holoprosencephaly and related entities.

8. Optic nerve hypoplasia in infancy.

9. Pituitary function in a patient with septo-optic dysplasia and pituitary dwarfism (Kaplan-Grumbach-Hoyt syndrome).

10. Agenesis of the vermis with fusion of the cerebellar hemispheres, septo-optic dysplasia and associated anomalies. Report of a case.