✦ LIBER ✦

HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13)

✍ Scribed by Hasegawa, Tomonobu; Hasegawa, Yukihiro; Aso, Taiji; Koto, Shinobu; Nagai, Toshiro; Tsuchiya, Yutaka; Kim, Kyoung Chang; Ohashi, Hirofumi; Wakui, Keiko; Fukushima, Yoshimitsu

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 11 KB
Volume: 73
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19971231)73:4<416::aid-ajmg9>3.0.co;2-l

No coin nor oath required. For personal study only.

✦ Synopsis

A combination of hypoparathyroidism, sensorineural deafness, and renal dysplasia has been considered to be a new syndrome inherited in an autosomal dominant fashion; we name the condition ''HDR syndrome.'' We describe a Japanese girl who has HDR syndrome associated with de novo del(10)(p13). The chromosome deletion suggests that the putative gene(s) responsible for HDR syndrome is located at a 10pter→p13 region.

📜 SIMILAR VOLUMES

Recurrent cerebral infarctions and del(1

Recurrent cerebral infarctions and del(10)(p14p15.1) de novo in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome

✍ Fujimoto, Shinji; Yokochi, Kenji; Morikawa, Haruko; Nakano, Masao; Shibata, Hide 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 15 KB

We report on a Japanese boy with HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) and recurrent cerebral infarctions in the basal ganglia. The patient experienced cerebral infarctions four times between age 7 months and age 20 months. Chromosome analysis of the patient demo

Genetic heterogeneity associated with br

Genetic heterogeneity associated with branchio-oto-renal syndrome

✍ Kumar, Shrawan; Kimberling, William J.; Marres, Henri A.M.; Cremers, Cor W.R.J. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 3 KB 👁 2 views

Barraquer-Simons syndrome (with sensorin

Barraquer-Simons syndrome (with sensorineural deafness): A contribution to the differential diagnosis of lipodystrophy syndromes

✍ Spranger, Stephanie; Spranger, Matthias; Tasman, Abel-Jan; Reith, Wolfgang; Voig 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 20 KB 👁 1 views

Among the lipodystrophies, the Barraquer-Simons syndrome is a rare condition. We describe a 27-year-old woman with progressive loss of subcutaneous fat after 15 years first affecting the face and spreading to the upper part of the body. She also suffered from deafness and had marked changes in crani

Achondroplasia associated with Down synd

Achondroplasia associated with Down syndrome

✍ Carakushansky, Gerson; Carakushansky, Gerson; Rosembaum, Stella; Ribeiro, Marcia 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 5 KB 👁 2 views

Robinow syndrome with developmental brai

Robinow syndrome with developmental brain dysplasia

✍ Guillén-Navarro, Encarna; Wallerstein, Robert; Reich, Elsa; Zajac, Laura; Ostrer 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 9 KB 👁 2 views

Dominant coloboma-microphthalmos syndrom

Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate

✍ Ravine, David; Ragge, Nicola K.; Stephens, Dafydd; Oldridge, Michael; Wilkie, An 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 50 KB 👁 1 views

Ocular colobomas and microphthalmos, isolated or as part of a syndrome, are usually sporadic and only rarely found in large families. A 4-generation family with autosomal dominant uveal coloboma and microphthalmos associated with cleft lip and palate was re-evaluated. Wide variability in expression