Abstract
The Nijmegen Breakage syndrome (NBS) is characterized by chromosomal instability, combined immunodeficiency, and distinctive physical features. We present two siblings with NBS presenting with strikingly different manifestations. The proband is a 6-year-old female with short stature, microcephaly, hepatosplenomegaly, rectovaginal fistula, anal atresia, an ectopic kidney, recurrent fevers and otitis media. A 7-year-old brother has developmental delay, failure to thrive, and microcephaly without recurring infections. Both patients have hypogammaglobulinemia, B cell lymphopenia and reduced phytohaemagglutinin-induced lymphocyte proliferation. Both siblings are homozygous for the c.657_661delACAAA (p.Lys219Asnfs*16) mutation in the NBN (NBS1) gene.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
