Figure 1. A.

Figure 1

A. Newborn with Crisponi syndrome, caused by biallelic CRFL1 pathogenic variants, showing camptodactyly with fisted hands and characteristic facial features (rounded face, poorly developed and depressed nasal bridge, anteverted nares, long philtrum, facial grimacing, and tightly pursed lips).

B. Same infant at age three months in a relaxed state without the facial grimacing.

From: Cold-Induced Sweating Syndrome Including Crisponi Syndrome

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