The muscular-skeletal features merely configure Leri's pleonosteosis (LP) phenotype, a very rare disorder first described in 1921 .
Leri's pleonosteosis was originally described as a rare congenital rheumatic disease frequently overlapping with other muscoloskeletal diseases .
The present work describes an 8-year-old girl that showed a Leri's pleonosteosis phenotype associated with neurodevelopmental disorders and psychiatric symptoms.
Thus, our 8-year-old girl presented with clinical and genetic features of Leri's pleonosteosis, within a larger microduplication involving different genes not strictly related to our patient phenotype.
This case report describes an 8-year-old girl with micro-duplication of chromosome 8q22.1 characterized by Leri's pleonosteosis features, neurodevelopmental, and psychiatric disorders.
The report provides a description of a possible wider phenotype of Leri's pleonosteosis disease, encompassing not only the physical signs but also psychiatric symptoms, and supports the conception of a more integrated mentalphysical health care approach.
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Yeoman, "Leri's pleonosteosis," Proceedings of the Royal Society of Medicine, vol.
Block, "Leri's pleonosteosis; a study of a family with a review of the literature," Journal of Bone and Joint Surgery, vol.