Hypoparathyroidism-retardation-dysmorphism syndrome

Congenital hypoparathyroidism, growth retardation and facial dysmorphism is a rare autosomal recessive disorder seen among children born to consanguineous couple of Arab ethnicity. This syndrome is commonly known as Sanjad-Sakati or hypoparathyroidism-retardation-dysmorphism syndrome (HRD). We repor...

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Autores principales: Kumar, Kalenahalli Jagadish, Kumar, Halasahalli Chowdegowda Krishna, Manjunath, Vadambal Gopalakrishna, Mamatha, Sangaraju
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3841568/
https://www.ncbi.nlm.nih.gov/pubmed/24339556
http://dx.doi.org/10.4103/0971-6866.120814
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author Kumar, Kalenahalli Jagadish
Kumar, Halasahalli Chowdegowda Krishna
Manjunath, Vadambal Gopalakrishna
Mamatha, Sangaraju
author_facet Kumar, Kalenahalli Jagadish
Kumar, Halasahalli Chowdegowda Krishna
Manjunath, Vadambal Gopalakrishna
Mamatha, Sangaraju
author_sort Kumar, Kalenahalli Jagadish
collection PubMed
description Congenital hypoparathyroidism, growth retardation and facial dysmorphism is a rare autosomal recessive disorder seen among children born to consanguineous couple of Arab ethnicity. This syndrome is commonly known as Sanjad-Sakati or hypoparathyroidism-retardation-dysmorphism syndrome (HRD). We report 13-year-old Hindu boy with hypoparathyroidism, tetany, facial dysmorphism and developmental delay, compatible with HRD syndrome.
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spelling pubmed-38415682013-12-11 Hypoparathyroidism-retardation-dysmorphism syndrome Kumar, Kalenahalli Jagadish Kumar, Halasahalli Chowdegowda Krishna Manjunath, Vadambal Gopalakrishna Mamatha, Sangaraju Indian J Hum Genet Case Report Congenital hypoparathyroidism, growth retardation and facial dysmorphism is a rare autosomal recessive disorder seen among children born to consanguineous couple of Arab ethnicity. This syndrome is commonly known as Sanjad-Sakati or hypoparathyroidism-retardation-dysmorphism syndrome (HRD). We report 13-year-old Hindu boy with hypoparathyroidism, tetany, facial dysmorphism and developmental delay, compatible with HRD syndrome. Medknow Publications & Media Pvt Ltd 2013 /pmc/articles/PMC3841568/ /pubmed/24339556 http://dx.doi.org/10.4103/0971-6866.120814 Text en Copyright: © Indian Journal of Human Genetics http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Kumar, Kalenahalli Jagadish
Kumar, Halasahalli Chowdegowda Krishna
Manjunath, Vadambal Gopalakrishna
Mamatha, Sangaraju
Hypoparathyroidism-retardation-dysmorphism syndrome
title Hypoparathyroidism-retardation-dysmorphism syndrome
title_full Hypoparathyroidism-retardation-dysmorphism syndrome
title_fullStr Hypoparathyroidism-retardation-dysmorphism syndrome
title_full_unstemmed Hypoparathyroidism-retardation-dysmorphism syndrome
title_short Hypoparathyroidism-retardation-dysmorphism syndrome
title_sort hypoparathyroidism-retardation-dysmorphism syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3841568/
https://www.ncbi.nlm.nih.gov/pubmed/24339556
http://dx.doi.org/10.4103/0971-6866.120814
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AT manjunathvadambalgopalakrishna hypoparathyroidismretardationdysmorphismsyndrome
AT mamathasangaraju hypoparathyroidismretardationdysmorphismsyndrome

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