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Eur J Pediatr Surg 1996; 6(4): 231-232
DOI: 10.1055/s-2008-1066515
DOI: 10.1055/s-2008-1066515
Case report
© Georg Thieme Verlag KG Stuttgart · New York
Management of Thoracolaryngopelvic Dysplasia
Further Information
Publication History
Publication Date:
25 March 2008 (online)
Abstract
We report a family in which three members have thoracolaryngopelvic dysplasia (Barnes' syndrome). This family illustrates the phenotypic variability seen in this rare clinical entity and highlights the medical and surgical management necessary in such cases.
Zusammenfassung
Es wird eine Familie vorgestellt, innerhalb derer 3 Mitglieder an einer thorakolaryngopelvinen Dysplasie (Barnes-Syndrom) litten. Sowohl die Mutter wie zwei ihrer Kinder waren betroffen.
Key words
Barnes' syndrome - Jeune syndrome - Thoraco-laryngo-pelvic dysplasia
Schlüsselwörter
Barnes-Syndrom - Thorakolaryngopelvine Dysplasie