Title of article
Absent abdominal muscles,nephro-urologic abnormalities,and severe neurologic damage in an infant with 3 chromosomal duplications: A novel syndrome?
Author/Authors
Akl, Kamal F. Jordan University Hospital - Faculty of Medicine - Department of Pediatrics/Section of Nephrology, Jordan , Albaramki, Jumana H. Jordan University Hospital, Jordan , Ghani, Eman A. University of Jordan - Faculty of Medicine, Jordan , Al Qaisi, Mohammad I. University of Jordan - Faculty of Medicine, Jordan , Abujaber, Nadeen Boston’s Children Hospital, USA , Tavares, Purificacao CGC Genetics, Portugal
From page
195
To page
197
Abstract
Absent abdominal muscles,cryptorchidism,and hydroureteronephrosis are known to occur in the prune belly syndrome (PBS).We present a male with absent abdominal muscles,severe neurologic damage,with global developmental delay,hydroureteronephrosis,and cryptorchidism. The patient also had arthrogryposis multiplex congenital,low set ears,short neck,micrognathia,bilateral total ptosis,and bilateral clubfeet. Genetic testing (CGH array) revealed 3 novel duplications of unknown clinical significance at 7q11.23,9q22.32 (PTCH 1 gene),and 12q21.32 (CEP 290 gene). Conclusion: We feel that our patient represents a novel entity,henceforth not described in the literature. © 2014.
Keywords
Abdominal muscles , Chromosome 12 , Chromosome 7 , Chromosome 9 , Microduplication
Journal title
Egyptian Journal of Medical Human Genetics
Journal title
Egyptian Journal of Medical Human Genetics
Record number
2721161
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