A Case Report of Familial HDR Syndrome

Birgül KIREL; İlhan HAZER; Can AYDIN

doi:https://doi.org/10.20515/otd.785745

Makale detayları

A Case Report of Familial HDR Syndrome

Yazarlar:

Birgül KIREL | İlhan HAZER | Can AYDIN

Yayıncı:

Eskişehir Osmangazi University

Ana Başlıklar:

Sağlık teşvikleri

Dergi:

Osmangazi Journal of Medicine 2021 Vol.43 Issue 4, pp.418-422

Belge Tipi:

Makale

Yayın Tarihi:

5/2021

Belge Dili:

İngilizce

Document ID (Org No.):

2000554939

Sıklık:

İki Aylık

eISSN:

2587-1579

pISSN:

1305-4953

DOI:

https://doi.org/10.20515/otd.785745

Özet:

 

HDR Syndrome is a rare disease that is inherited autosomal dominantly characterized by a triad of hypoparathyroidism, sensorineural hearing impairment and renal dysplasia. This syndrome is caused by haploinsufficiency of GATA3 gene. We report a family in which two sisters and the father diagnosed with HDR Syndrome because of having hypoparathyroidism and sensorineural deafness. One of these patients had an arachnoid cyst in the left temporal region and cerebellar tonsillar ectopy. The father had horseshoe kidney. A heterozygous GATA3 gene variant (NM_001002295.1 c.1099C>T (p.R367X)) were showed in the sisters. By presenting this case, the clinical and genetic features of HDR Syndrome are reviewed.

Makale detayları

A Case Report of Familial HDR Syndrome

Yazarlar: Birgül KIREL | İlhan HAZER | Can AYDIN

Yayıncı: Eskişehir Osmangazi University

Ana Başlıklar: Sağlık teşvikleri

Dergi: Osmangazi Journal of Medicine 2021 Vol.43 Issue 4, pp.418-422

Belge Tipi: Makale

Yayın Tarihi: 5/2021

Belge Dili: İngilizce

Document ID (Org No.): 2000554939

Sıklık: İki Aylık

eISSN: 2587-1579

pISSN: 1305-4953

DOI: https://doi.org/10.20515/otd.785745

Sayı

Yazarlar:

Birgül KIREL | İlhan HAZER | Can AYDIN

Yayıncı:

Eskişehir Osmangazi University

Ana Başlıklar:

Sağlık teşvikleri

Dergi:

Osmangazi Journal of Medicine 2021 Vol.43 Issue 4, pp.418-422

Belge Tipi:

Makale

Yayın Tarihi:

5/2021

Belge Dili:

İngilizce

Document ID (Org No.):

2000554939

Sıklık:

İki Aylık

eISSN:

2587-1579

pISSN:

1305-4953

DOI:

https://doi.org/10.20515/otd.785745