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Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia.
Türkkani-Asal G, Alanay Y, Turul-Ozgür T, Zenker M, Thiel C, Rauch A, Unal S, Gürgey A, Tezcan I. Türkkani-Asal G, et al. Turk J Pediatr. 2009 Sep-Oct;51(5):493-6. Turk J Pediatr. 2009. PMID: 20112607 Free article.
Cartilage-hair hypoplasia (CHH) is one of the well-known immuno-osseous dysplasias (IOD), which are a combination of skeletal dysplasia and immunodeficiency. ...However, there is a significant overlap of clinical findings among the other IODS such as …
Cartilage-hair hypoplasia (CHH) is one of the well-known immuno-osseous dysplasias (IOD), which are a combination of sk …
[Schimke's immuno-osseous dysplasia as an explanation for the rare combination of disproportionately short stature and the nephrotic syndrome].
de Jong M, van Wijk JA, van der Hulst JP, Ludwig M, Bökenkamp A. de Jong M, et al. Ned Tijdschr Geneeskd. 2005 Sep 24;149(39):2178-82. Ned Tijdschr Geneeskd. 2005. PMID: 16223078 Dutch.
A 10-year-old Turkish boy with consanguineous parents was presented with a disproportionately short stature and a nephrotic syndrome. The mild form of Schimke's immuno-osseous dysplasia was diagnosed as the common cause. ...In Schimke' …
A 10-year-old Turkish boy with consanguineous parents was presented with a disproportionately short stature and a nephrotic syndrome. The mi …
New and old immunodeficiencies.
Stiehm ER. Stiehm ER. Pediatr Res. 1993 Jan;33(1 Suppl):S2-7; discussion S7-8. doi: 10.1203/00006450-199305001-00007. Pediatr Res. 1993. PMID: 8433870 Review.
These include the following six groups of defects: 1) neutropenic syndromes with hypogammaglobulinemia, including the WHIM syndrome; 2) phenotypic genetic syndromes with immunodeficiency including Bloom's syndrome and Schimke's immuno-osseous dyspla …
These include the following six groups of defects: 1) neutropenic syndromes with hypogammaglobulinemia, including the WHIM syndrome; 2) phen …