Kenny-Caffey Syndrome in several members of a family

Authors

  • Elayne Esther Santana Hernández Centro Provincial de Genética Médica, Holguín
  • Elena Gertrudis Rodríguez Font Hospital Pediátrico Universitario, Holguín

Keywords:

Kenny-Caffey syndrome, genetic disease, hypocalcemia crisis, low height, hypoacusis, ophthalmologic disorder.

Abstract

The Kenny-Caffey syndrome is a hereditary, extremely strange disease that is transmitted in an autosomal dominant way and  is characterized by growth failure, ocular anomalies, hypocalcemia and cortinal swelling of the long bones whose early diagnosis and intervention will help to improve the life quality of affected patients. Two members of a family are presented (mother and a son), assisted in the clinical genetics service in Holguín, with clinical characteristics that fitted with this syndrome, to share these findings with the medical community in general, because the fact  that 3 people of the same family were affected attracted attention, although just  2 of them are described.  

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Author Biography

Elayne Esther Santana Hernández, Centro Provincial de Genética Médica, Holguín

Máster en Atención Integrak al Niño.

Profesora asistente de la Universidad Médica de Holguín.
Especialista de Primer y Segundo Grado en Medicina General Integral.

Especialista de Primer y Segundo Grado en Genética Clínica.

References

1. Kirk J. Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. J Med Genet. 1998 [citado 12 Sep 2015]; 35(12). Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1051527/

2. Goodship J. Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. J Med Genet. 1998 [citado 12 Sep 2015]; 35(12):1054-6. Disponible en: http://jmg.bmj.com/content/35/12/1054.2.citation

3. Abbass Metwalley K, Saad Farghaly H. Kenny-Caffey syndrome type 1 in an Egyptian girl. Indian J Endocrinol Metab. 2012 [citado 12 Sep 2015]; 16(5):827–9. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3475915/

4. El Jabbour T, Aboursheid T, Baraa Keifo M, Maksoud I, Alasmar D. Kenny-Caffey syndrome type 1. Avicenna J Med. 2014 [citado 12 Sep 2015];4(3):74-6. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065464/

5. Christodoulou L, Krishnaiah A, Spyridou Ch, Salpietro V, Hannan S, Saggar A, et al. Kenny Caffey syndrome with severe respiratory and gastrointestinal involvement: expanding the clinical phenotype. Quant Imaging Med Surg. 2015 [citado 12 Sep 2015];5(3):476-9. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4426115/

6. Abraham M, Dong L, Rath S, O’Connell S, McKenzie F, Hakonarson H, et al. Autosomal dominant Kenny-Caffey syndrome with congenital hypoparathyroidism, short stature and normal intellect: a case report. Int J Pediatr Endocrinol. 2015 [citado 12 Sep 2015]; 2015 (Suppl 1): 72. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4428867/

7. Kumar KJ, Kumar HCK, Manjunath VG, Mamatha S. Hypoparathyroidism-retardation-dysmorphism syndrome. Indian J Hum Genet. 2013 [citado 12 Sep 2015];19(3):363–5. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3841568/

8. Guo MH, Shen Y, Walvoord EC, Miller TC, Moon JM, Hirschhorn JN, et al. Whole exome sequencing to identify genetic causes of short stature. Horm Res Paediatr. 2014 [citado 12 Sep 2015]; 82(1): 44–52. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/24970356

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Published

2017-03-13

How to Cite

1.
Santana Hernández EE, Rodríguez Font EG. Kenny-Caffey Syndrome in several members of a family. MEDISAN [Internet]. 2017 Mar. 13 [cited 2025 Sep. 19];21(3). Available from: https://medisan.sld.cu/index.php/san/article/view/659

Issue

Vol. 21 No. 3 (2017): MEDISAN

Section

Case Reports

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