Primary Empty Sella and Rieger's Anomaly of the Anterior Chamber of the Eye

Kleinmann, Richard E.; Kazarian, Edward L.; Raptopoulos, Vassilios; Braverman, Lewis E.

doi:10.1056/nejm198101083040205

Cited by 34 publications

(6 citation statements)

References 22 publications

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“…Rieger eye anomaly is a defect of anterior chamber cleavage or mesodermal dysgenesis of the iris and cornea. Furthermore, Rieger eye anomaly may occur as a part of Rieger syndrome, an autosomal dominant condition that includes dental hypoplasia, maxillary hypoplasia, middle ear deafness, and umbilical protrusion [Waring et al, 19761 [Aarskog et al, 1983;Feingold et al, 1969;De Hauwere et al, 1973;Sadeghi-Nejad and Senior, 1974;Polomeno et al, 1980;Kleimmann et al, 1981;Gorlin et al, 1976;Crawford, 19671. Although IGF-1 levels were tested in only one patient, they were found to be significantly decreased [Polomeno et al, 19803.…”

Section: Discussionmentioning

confidence: 99%

Deletion of 20p 11.23→pter with normal growth hormone‐releasing hormone genes

et al. 1991

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Using a molecular analysis of the DNA from a patient with a deletion of chromosome 20 [46,XX,del(20)(p 11.23)], we have excluded the growth hormone-releasing hormone (GHRH) gene from the region 20p11.23----pter. The patient had minor facial anomalies. Rieger eye anomaly, a congenital heart defect, severe failure to thrive, and a neurosecretory problem in growth hormone (GH) secretion. Since the GHRH gene was previously mapped to chromosome 20, we used molecular genetic methods to determine whether the growth abnormalities were due to the deletion of this gene. DNAs of the patient and 2 normal control subjects were analyzed by quantitative Southern blotting using a DNA probe for the GHRH gene and 2 reference DNA probes mapping to chromosome 21. The GHRH gene was found to be present in 2 copies in the patient. This indicates that the gene for GHRH maps to the region outside the patient's deletion, in 20p11.23----qter. Furthermore, our results suggest that genes other than GHRH on 20p are important for developmental steps leading to normal neurosecretory function of GH and may also be involved in generating Rieger eye anomaly. Finally, GH deficiency and Rieger eye anomaly should be sought in other patients with deletions of 20p.

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Section: Discussionmentioning

confidence: 99%

Deletion of 20p 11.23→pter with normal growth hormone‐releasing hormone genes

et al. 1991

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“…Recently, Kleinmann et al (1981) reported the presence of an empty sella and of Rieger's anomaly (anterior chamber of the eye) in a family. In two subjects from this family a TRH test showed a normal TSH and prolactin response.…”

Section: Discussionmentioning

confidence: 99%

Carpenter's syndrome with empty sella and abnormal LRH and TRH response

Verdy¹,

Dussault²,

Verrault³

et al. 1983

Acta Endocrinologica

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Two sisters with Carpenter's syndrome and empty sella have been evaluated for pituitary function. The TRH injection brought a normal response of TSH and prolactin. There were no change in FSH and LH, but a paradoxical increase of growth hormone and cortisol. The injection of LRH brought a normal response of FSH and LH, no change in TSH and cortisol values and a paradoxical increase in prolactin and growth hormone.

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“…3 Department of Precision Medicine, University of Campania "Luigi Vanvitelli", 80138 Naples, Italy. 4…”

Section: Fundingmentioning

confidence: 99%

“…Axenfeld-Rieger Syndrome (ARS) is a rare autosomal dominant genetic disease with considerable expressive variability [1], characterized by ocular and non-ocular manifestations (cardiovascular, mild craniofacial abnormalities and dental malformations). In some cases, patients may have short stature, mental retardation and finger malformations [2][3][4][5][6]. An abnormal migration and differentiation of neural crest cells are considered responsible for anomalies in ocular, craniofacial and dental development.…”

Section: Introductionmentioning

confidence: 99%

Axenfeld–Rieger syndrome: orthopedic and orthodontic management in a pediatric patient: a case report

et al. 2022

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Axenfeld–Rieger Syndrome (ARS) is a rare autosomal dominant genetic disease with considerable expressive variability, characterized by ocular and non-ocular manifestations, cardiovascular, mild craniofacial abnormalities and dental malformations. Current data report an incidence of Xenfeld-Rieger syndrome in the population of 1: 200,000.The case described is that of a 14-year-old female patient whose ARS is suspected and investigated following a dental specialist visit for orthodontic reasons, acquired the patient’s family and clinical data following a medical approach multidisciplinary, we proceed to the orthodontic involved the use of the Rapid Palatal Expander (RPE) and a fixed orthodontic treatment.The aim of this study is to report the case of the orthopaedic and orthodontic treatment in a patient affected by ARS and with facial dysmorphism and teeth anomalies associated to ocular anomalies.

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Primary Empty Sella and Rieger's Anomaly of the Anterior Chamber of the Eye

Cited by 34 publications

References 22 publications

Deletion of 20p 11.23→pter with normal growth hormone‐releasing hormone genes

Deletion of 20p 11.23→pter with normal growth hormone‐releasing hormone genes

Carpenter's syndrome with empty sella and abnormal LRH and TRH response

Axenfeld–Rieger syndrome: orthopedic and orthodontic management in a pediatric patient: a case report

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