Thin ribs-tubular bones-dysmorphism syndrome

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Thin ribs-tubular bones-dysmorphism syndrome

Synonyms: Sharma-Kapoor-Ramji syndrome

An extremely rare lethal primary bone dysplasia characterized by thin ribs thin long bones high-arched palate and facial features of frontal bossing and low-set posteriorly rotated ears. Bilateral cryptorchidism may be also observed. There have been no further descriptions in the literature since 1990.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version February 2024

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Thin ribs-tubular bones-dysmorphism syndrome?

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