✦ LIBER ✦

Juvenile variant of Schimke immunoosseous dysplasia

✍ Scribed by Hashimoto, Kazuhiro ;Takeuchi, Ariko ;Ieshima, Atsushi ;Takada, Mitsuyoshi ;Kasagi, Masaaki

Publisher: John Wiley and Sons
Year: 1994
Tongue: English
Weight: 460 KB
Volume: 49
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320490304

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Autoimmune enteropathy in Schimke immuno

Autoimmune enteropathy in Schimke immunoosseous dysplasia

✍ Kaitila, I.; Savilahti, E.; �rm�l�, T. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 31 KB 👁 2 views

The clinical phenotype of Schimke immunoosseous dysplasia (SID) is characterized by growth retardation, renal failure, recurrent infections, cerebral infarcts, and skin pigmentation beginning in childhood. We report here on a 4-year-old male child who had all characteristic symptoms of SID, and, in

Spondyloepiphyseal dysplasia with nephro

Spondyloepiphyseal dysplasia with nephrotic syndrome (Schimke immunoosseous dysplasia)

✍ Šantavá, Alena ;Zapletalová, Jiřina ;Michálková, Kamila ;Hanáková, Stanislava ;K 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 365 KB 👁 2 views

Schimke immunoosseous dysplasia complica

Schimke immunoosseous dysplasia complicated by moyamoya phenomenon

✍ Boerkoel, Cornelius F.; Nowaczyk, Malgorzata J.M.; Blaser, Susan I.; Meschino, W 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 20 KB 👁 2 views

Schimke immunoosseous dysplasia (SID) is an autosomal recessive spondyloepiphyseal dysplasia that was first described by Schimke et al. [1971: Lancet 2:1088-1089]. It is associated with premature arteriosclerosis and cerebral ischemia; however, the cerebral vascular abnormalities causing ischemia ha

Mental retardation and seizure disorder

Mental retardation and seizure disorder in Schimke immunoosseous dysplasia

✍ Sigurdardottir, Solveig; Myers, Scott M.; Woodworth, James M.; Raymond, Gerald V 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 16 KB 👁 2 views

Schimke immunoosseous dysplasia (SID) is a rare, pleiotropic disorder compromising spondyloepiphyseal dysplasia, nephrotic syndrome, defective T-cell-mediated immunity, and vascular changes which can lead to cerebral infarcts. The cause is unknown but an autosomal recessive inheritance pattern has b

Variant of odontoonychodermal dysplasia?

✍ Arnold, W. P. ;Merkx, M. A. W. ;Steijlen, P. M. 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 304 KB 👁 1 views

Association of migraine-like headaches w

Association of migraine-like headaches with Schimke immuno-osseous dysplasia

✍ Sara Sebnem Kilic; Osman Donmez; Emily A. Sloan; Leah I. Elizondo; Cheng Huang; 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 151 KB 👁 2 views