An Autopsy Case of Beare-Stevenson Cutis Gyrata Syndrome Presenting with an Extremely Short Small Intestine.
Ryo Uraki, Masaki Yamamoto, Noriko Miura et al.
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Case in brief
An infant with Beare-Stevenson cutis gyrata syndrome, a craniosynostosis associated with an FGFR2 pathogenic variant, had severe failure to thrive. Autopsy showed that the heart, liver, and lungs were proportionate to body weight, while the brain, pancreas, and spleen were enlarged. The small intestine was markedly shorter than expected for an infant of similar body size; the authors considered this a possible explanation for the poor weight gain.
What made this case unusual
The autopsy revealed a markedly short small intestine alongside disproportionate enlargement of the brain, pancreas, and spleen, providing detailed organ findings in this syndrome.
Diagnostic / clinical pearl
In an infant with Beare-Stevenson syndrome and severe failure to thrive, consider that markedly reduced small-intestinal length may contribute to poor weight gain.