An Autopsy Case of Beare-Stevenson Cutis Gyrata Syndrome Presenting with an Extremely Short Small Intestine

Abstract

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.

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BibTeX RIS

BibTeX

@article{uraki2026autopsy,
  title = {{An Autopsy Case of Beare-Stevenson Cutis Gyrata Syndrome Presenting with an Extremely Short Small Intestine}},
  author = {Ryo Uraki and Masaki Yamamoto and Noriko Miura and Miki Irie and Tomoko Uemura and Junko Nakashima and Mariko Araki and Kenshi Matsushita and Tadashi Kaname and Mikiya Fujieda},
  journal = {Internal Medicine},
  year = {2026},
  month = nov,
  doi = {10.2169/internalmedicine.6223-25},
  url = {https://www.jstage.jst.go.jp/article/internalmedicine/65/21/65_6223-25/_article},
  note = {CC BY-NC-ND},
}

RIS

TY  - JOUR
TI  - An Autopsy Case of Beare-Stevenson Cutis Gyrata Syndrome Presenting with an Extremely Short Small Intestine
AU  - Ryo Uraki
AU  - Masaki Yamamoto
AU  - Noriko Miura
AU  - Miki Irie
AU  - Tomoko Uemura
AU  - Junko Nakashima
AU  - Mariko Araki
AU  - Kenshi Matsushita
AU  - Tadashi Kaname
AU  - Mikiya Fujieda
PY  - 2026
DA  - 2026/11/01
JO  - Internal Medicine
DO  - 10.2169/internalmedicine.6223-25
UR  - https://www.jstage.jst.go.jp/article/internalmedicine/65/21/65_6223-25/_article
AB  - 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.
SN  - 1349-7235
SN  - 0918-2918
ER  -

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