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A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype.
McGaughran J, Sinnott S, Susman R, Buckley MF, Elakis G, Cox T, Roscioli T. McGaughran J, et al. Clin Dysmorphol. 2006 Apr;15(2):89-93. doi: 10.1097/01.mcd.0000194407.92676.9d. Clin Dysmorphol. 2006. PMID: 16531735 Review.
We present a case of Beare-Stevenson syndrome with a broad range of phenotypic features including craniosynostosis, cutis gyrata, choanal stenosis, bifid scrotum with perineal hypospadias and a caudal appendage. The paternal age at the time of conception was 62 years consi …
We present a case of Beare-Stevenson syndrome with a broad range of phenotypic features including craniosynostosis, cutis gyrata, choanal st …
[Neurogenic bladder dysfunction due to spina bifida and sacral dysgenesis manifested itself in middle age. Report of a case].
Kaneoya F, Mine M, Ishizaka K, Gotoh S, Yokokawa M, Hiraga S. Kaneoya F, et al. Nihon Hinyokika Gakkai Zasshi. 1990 Jul;81(7):1091-4. doi: 10.5980/jpnjurol1989.81.1091. Nihon Hinyokika Gakkai Zasshi. 1990. PMID: 2214473 Free article. Review. Japanese.
He had never had any neurologic or bladder dysfunction in his childhood and adulthood. X-ray examination revealed a bifid spine and sacral dysgenesis, bilateral hydronephrosis, bilateral VUR and urethral stricture. ...
He had never had any neurologic or bladder dysfunction in his childhood and adulthood. X-ray examination revealed a bifid spine and s …