Figure legend from original publication:
Fig. 1. Typical clinical features of Crisponi syndrome.
1. Subject CS07.
2. Subject CS10.
3. Subject CS14.
4. Subject CS03.
A–D. Facial expression at different ages, from birth to present.
E. Front and back views, at the present time. Note scoliosis and limited extension of elbows.
F. Subjects' hands. Note consistent camptodactyly.
5. Subject CS37, aged 14 mo. Note perioral muscular contractions (A) and camptodactyly (B and C).
5D & 5E. Subject CS42, aged 13 years. Note thoracolumbal scoliosis (D) and camptodactyly (E).
5F. Subject CS41, aged 14 years. Note camptodactyly.
Source: Crisponi L et al. (2007)
Crisponi syndrome is caused by mutations in the CRLF1 gene
and is allelic to cold-induced sweating syndrome type 1. Am J Hum Gen 80(5):971-981.
Figure reprinted with permission from Elsevier. Full text on PubMed.
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