Literature DB >> 6342392

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

W K Lee, A Vargas, J Barnes, A W Root.   

Abstract

A 2-year-old black boy with the Kenny-Caffey syndrome was first evaluated because of growth retardation and hypocalcemia. Hypothalamic-pituitary function was normal. Basal serum somatomedin C levels were normal for age, but did not increase during short-term administration of human growth hormone. Serum immunoreactive parathyroid hormone levels remained inappropriately low during spontaneous and induced hypocalcemia, indicating that hypocalcemia was the consequence of hypoparathyroidism. The manifestations of 15 patients with this syndrome are tabulated.

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Year:  1983        PMID: 6342392     DOI: 10.1002/ajmg.1320140419

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  9 in total

1.  Defective growth hormone secretion and hypogonadism in the new syndrome of congenital hypoparathyroidism, growth failure and dysmorphic features.

Authors:  A T Soliman; A Darwish; I alSalmi; M Asfour
Journal:  Indian J Pediatr       Date:  1996 Sep-Oct       Impact factor: 1.967

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

Authors:  M A Sabry; M Zaki; S J Abul Hassan; D G Ramadan; M A Abdel Rasool; S A al Awadi; Q al Saleh
Journal:  J Med Genet       Date:  1998-01       Impact factor: 6.318

3.  Kenny Caffey syndrome with severe respiratory and gastrointestinal involvement: expanding the clinical phenotype.

Authors:  Loucas Christodoulou; Anil Krishnaiah; Christina Spyridou; Vincenzo Salpietro; Siobhan Hannan; Anand Saggar; Kshitij Mankad; Akash Deep; Maria Kinali
Journal:  Quant Imaging Med Surg       Date:  2015-06

4.  Kenny syndrome: description of additional abnormalities and molecular studies.

Authors:  I Bergada; A Schiffrin; H Abu Srair; P Kaplan; J Dornan; D Goltzman; G N Hendy
Journal:  Hum Genet       Date:  1988-09       Impact factor: 4.132

5.  Short stature, mental retardation, and hypoparathyroidism: a new syndrome.

Authors:  R J Richardson; J M Kirk
Journal:  Arch Dis Child       Date:  1990-10       Impact factor: 3.791

6.  Kenny-Caffey syndrome type 1.

Authors:  Tony El Jabbour; Tarek Aboursheid; Mohammad Baraa Keifo; Ismael Maksoud; Diana Alasmar
Journal:  Avicenna J Med       Date:  2014-07

Review 7.  Genetic causes of hypomagnesemia, a clinical overview.

Authors:  Daan H H M Viering; Jeroen H F de Baaij; Stephen B Walsh; Robert Kleta; Detlef Bockenhauer
Journal:  Pediatr Nephrol       Date:  2016-05-27       Impact factor: 3.714

Review 8.  Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.

Authors:  Simonetta Rosato; Sheila Unger; Belinda Campos-Xavier; Stefano Giuseppe Caraffi; Laura Beltrami; Marzia Pollazzon; Ivan Ivanovski; Marco Castori; Maria Paola Bonasoni; Giuseppina Comitini; Peter G J Nikkels; Kristin Lindstrom; Christine Umandap; Andrea Superti-Furga; Livia Garavelli
Journal:  Genes (Basel)       Date:  2022-01-28       Impact factor: 4.096

9.  Kenny-Caffey syndrome type 1 in an Egyptian girl.

Authors:  Kotb Abbass Metwalley; Hekma Saad Farghaly
Journal:  Indian J Endocrinol Metab       Date:  2012-09
  9 in total

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