Overlap between Rothmund-Thomson and Baller-Gerold syndrome.
Downloads
DOI:
https://doi.org/10.26326/2281-9649.32.2.2354How to Cite
Rabba S., Hali F., Chiheb S. 2022. Overlap between Rothmund-Thomson and Baller-Gerold syndrome. Eur. J. Pediat. Dermatol. 32 (2):98-100. 10.26326/2281-9649.32.2.2354.
pp. 98-100
Abstract
Congenital poikiloderma is a rare, multisystem condition with onset in early childhood, present in numerous inherited skin disorders. Here we present a 7-year-old boy with a polymalformative syndrome associated with poikiloderma. The complex clinical data led to the diagnosis of an intermediate phenotype between Rothmund-Thomson (RTS) and Baller-Gerold (BGS) syndromes.
Keywords
congenital poikiloderma, Rothmund-Thomson syndrome, craniosynostosis, cataract