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1.

Boudin-Mortier syndrome

Boudin-Mortier syndrome (BOMOS) is characterized by tall stature, arachnodactyly, disproportionately elongated great toes, and multiple extra epiphyses. Some patients also show joint hypermobility and dilation of the aortic root (Boudin et al., 2018). Mutation in the NPR2 gene (108961) results in a similar phenotype of increased stature and elongation of the digits, particularly of the great toes, with multiple extra epiphyses (epiphyseal chondrodysplasia, Miura type; 615923). [from OMIM]

MedGen UID:
1794202
Concept ID:
C5561992
Disease or Syndrome
2.

Pseudoepiphysis of the 1st metacarpal

The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal. [from HPO]

MedGen UID:
869673
Concept ID:
C4024101
Anatomical Abnormality

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