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

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.