Absent abdominal muscles, nephro-urologic abnormalities, and severe neurologic damage in an infant with 3 chromosomal duplications: A novel syndrome?

Kamal F. Akl, Jumana H. Albaramki, Eman A. Ghani, Mohammad I. Al Qaisi, Nadeen Abujaber, Purificação Tavares
2015 Egyptian Journal of Medical Human Genetics  
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
more » ... nificance 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.
doi:10.1016/j.ejmhg.2014.12.001 fatcat:iirkqg6ogfhmdj7ltkpncu6wxe