Immune abnormalities are a frequent manifestation of Kabuki syndrome
β Scribed by Jodi D. Hoffman; Karen L. Ciprero; Kathleen E. Sullivan; Paige B. Kaplan; Donna M. McDonald-McGinn; Elaine H. Zackai; Jeffrey E. Ming
- Book ID
- 101449908
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 53 KB
- Volume
- 135A
- Category
- Article
- ISSN
- 1552-4825
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A female patient with the karyotype 45,X/46, X, r(X)(p11.2 q13) and severe developmental delay, prominent fingertip pads, long palpebral fissures, short stature, and history of hypotonia had a phenotype reminiscent of Kabuki syndrome. We hypothesized that overexpression of X chromosome-derived seque
## Abstract We report a 2βyearβold boy with overlapping manifestations of the Kabuki (NiikawaβKuroki) and Opitz trigonocephaly syndromes. The proband was initially diagnosed with Opitz trigonocephaly syndrome on the basis of metopic craniosynostosis, upslanting palpebral fissures, high arched palat