A patient with a unique frameshift mutation in GPC3, causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle.

@article{Villarreal2013APW,
  title={A patient with a unique frameshift mutation in GPC3, causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle.},
  author={Diana D. Villarreal and Humberto Villarreal and Ana Mar{\'i}a P{\'a}ez and Dennis S. Peppas and Jane Lynch and Elizabeth R. Roeder and George Charles Powers},
  journal={American journal of medical genetics. Part A},
  year={2013},
  volume={161A 12},
  pages={3121-5}
}
We present a Hispanic male with the clinical and molecular diagnosis of Simpson-Golabi-Behmel syndrome (SGBS). The patient was born with multiple anomalies not entirely typical of SGBS patients, including penoscrotal hypospadias, a large prostatic utricle, and left coronal craniosynostosis. In addition, he demonstrated endocrine anomalies including a low random cortisol level suspicious for adrenal insufficiency and low testosterone level. To our knowledge, this is the first report of a… CONTINUE READING