Abstract
The patient is a 16-year-old male, with a history of recurrent respiratory infections and bronchiectasis requiring lobectomy at age 7 years. His parents are first cousins. He had a brother who died at age 8 years and reportedly had similar condition and diabetes insipidus. He has three healthy sisters. The patient has failure to thrive; his weight, height and head circumference are all below the 3rd percentile for age. He has a triangular fades with wide palpebral fissures, relative hypertelorism (OC 9.5, IC 3, IP 6, PF 3.2 cm), malar hypoplasia, prominent nasal bridge, relatively large nose, long philtrum, thin upper vermilion, prominent lower lip, retromicrognathia and hepatosplenomegaly. The immunologic work-up revealed lgG2 deficiency and defective cellular killing activity. The α1 -antitrypsin level and sweat test were normal Chromosome analysis revealed 46,XY karyotype, with 11 cells out of 51 showing centromeric association of two-to-three chromosomes, but not exclusively involving chromosomes 1, 9 and 16, reported in immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. The facial features in this patient are similar to those seen in ICF syndrome, except for the prominent nasal bridge and malar hypoplasia. The type of immune deficiency in this patient is also somewhat different from those reported in ICF. Therefore, our patient may represent a variant of ICF syndrome, or a separate entity.
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Hajianpour, M., Golkari, H., Sayar, S. et al. Immune deficiency (IgG2 deficiency), minimal centromeric association and facial dysmorphism. Genet Med 1, 54 (1999). https://doi.org/10.1097/00125817-199901000-00054
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DOI: https://doi.org/10.1097/00125817-199901000-00054