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Case Reports
. 2013 Jul;19(3):363-5.
doi: 10.4103/0971-6866.120814.

Hypoparathyroidism-retardation-dysmorphism syndrome

Kalenahalli Jagadish Kumar  1 , Halasahalli Chowdegowda Krishna Kumar, Vadambal Gopalakrishna Manjunath, Sangaraju Mamatha
Affiliations
Case Reports

Hypoparathyroidism-retardation-dysmorphism syndrome

Kalenahalli Jagadish Kumar et al. Indian J Hum Genet. 2013 Jul.

Abstract

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.

Keywords: Hindu; Sanjad-Sakati syndrome; hypoparathyroidism-retardation-dysmorphism syndrome.

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Conflict of interest statement

Conflict of Interest: None declared.

Figures

Figure 1
Figure 1
Facial dysmorphism features like long face, prominent forehead, bilateral dropping of eyelids, preauricular tag on the right side, beaked nose, depressed nasal bridge, long philtrum, maloccluded teeth, micrognathia and microcephaly
See this image and copyright information in PMC

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