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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024
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Thin ribs-tubular bones-dysmorphism syndrome?
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