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Absent abdominal muscles, nephro-urologic abnormalities, and severe neurologic damage in an infant with 3 chromosomal duplications: A novel syndrome?
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 clinicaldoi:10.1016/j.ejmhg.2014.12.001 fatcat:iirkqg6ogfhmdj7ltkpncu6wxe