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Literature DB >> 2843457

Kenny syndrome: description of additional abnormalities and molecular studies.

I Bergada¹, A Schiffrin, H Abu Srair, P Kaplan, J Dornan, D Goltzman, G N Hendy.

Abstract

An 18-month-old girl presented with clinical manifestations of Kenny syndrome including growth retardation, ophthalmologic abnormalities, a persistent open anterior fontanel, dysmorphic facies, anemia, radiologic skeletal abnormalities, and severe hypoparathyroidism. Analysis of restriction patterns of DNA with human parathyroid hormone (PTH) DNA probes revealed no gross abnormalities of the PTH gene that could contribute to the hypoparathyroidism. In addition to the previously described characteristics of the syndrome, hypoplastic nails, persistent neutropenia, abnormal T cell function and neonatal liver disease all occurred and may be additional manifestations of Kenny syndrome, requiring diagnostic or therapeutic consideration.

Entities: Disease Gene Species

Mesh：

Substances：

Year: 1988 PMID： 2843457 DOI： 10.1007/BF00451452

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

14 in total

1. Hypoparathyroidism and T cell immune defect in a patient with 10p deletion syndrome.

Authors: F Greenberg; C Valdes; H M Rosenblatt; J L Kirkland; D H Ledbetter
Journal: J Pediatr Date: 1986-09 Impact factor: 4.406

Review 2. Biological effects of anti-immunoglobulins: evidence for immunoglobulin receptors on 'T' and 'B' lymphocytes.

Authors: M F Greaves
Journal: Transplant Rev Date: 1970

3. Nucleotide sequence of cloned cDNAs encoding human preproparathyroid hormone.

Authors: G N Hendy; H M Kronenberg; J T Potts; A Rich
Journal: Proc Natl Acad Sci U S A Date: 1981-12 Impact factor: 11.205

4. Congenital stenosis of medullary spaces in tubular bones and calvaria in two proportionate dwarfs--mother and son; coupled with transitory hypocalcemic tetany.

Authors: J Caffey
Journal: Am J Roentgenol Radium Ther Nucl Med Date: 1967-05

5. Familial isolated hypoparathyroidism: a molecular genetic analysis of 8 families with 23 affected persons.

Authors: T G Ahn; S E Antonarakis; H M Kronenberg; T Igarashi; M A Levine
Journal: Medicine (Baltimore) Date: 1986-03 Impact factor: 1.889

6. Kenny syndrome: evidence for idiopathic hypoparathyroidism in two patients and for abnormal parathyroid hormone in one.

Authors: S Fanconi; J A Fischer; P Wieland; M Atares; A Fanconi; A Giedion; A Prader
Journal: J Pediatr Date: 1986-09 Impact factor: 4.406

Kenny syndrome: description of additional abnormalities and molecular studies.

1. Hypoparathyroidism and T cell immune defect in a patient with 10p deletion syndrome.

Review 2. Biological effects of anti-immunoglobulins: evidence for immunoglobulin receptors on 'T' and 'B' lymphocytes.

3. Nucleotide sequence of cloned cDNAs encoding human preproparathyroid hormone.

4. Congenital stenosis of medullary spaces in tubular bones and calvaria in two proportionate dwarfs--mother and son; coupled with transitory hypocalcemic tetany.

5. Familial isolated hypoparathyroidism: a molecular genetic analysis of 8 families with 23 affected persons.

6. Kenny syndrome: evidence for idiopathic hypoparathyroidism in two patients and for abnormal parathyroid hormone in one.

7. Ocular findings in Kenny's syndrome.

8. Nucleotide sequence of the human parathyroid hormone gene.

Review 9. The Kenny-Caffey syndrome: growth retardation and hypocalcemia in a young boy.

10. Serum 1,25-dihydroxyvitamin D concentration in hypophosphatemic vitamin D-resistant rickets.

1. Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster.

Review 2. Genetic causes of hypomagnesemia, a clinical overview.