Beare-Stevenson cutis gyrata syndrome (BSS) is a craniosynostosis caused by an FGFR2 pathogenic variant. Detailed reports of autopsy results are scarce. We herein present an autopsy case of BSS characterized by a disproportionate organ size and severe failure to thrive. Upon autopsy, the weights of the heart, liver, and lungs corresponded to the patient's body weight, whereas the brain, pancreas, and spleen were enlarged. Notably, the small intestine was much shorter in our patient than in infants with a similar body size, which could explain the poor weight gain. This case is the first comprehensive autopsy report of organ findings in BSS.
Uraki et al. (Thu,) studied this question.