Volume 44, Issue 6 pp. 813-815
Brief Clinical Report
Full Access

VATER/VACTERL association: Clinical variability and expanding phenotype including laryngeal stenosis

Dott. Giovanni Corsello

Corresponding Author

Dott. Giovanni Corsello

Cattedra di Patologia Neonatale IMI, Palermo, Italy

Cattedra di Patologia Neonatale, Istituto Materno-Infantile, Università di Palermo, Via Cardinale Rampolla, 1, 90142 Palermo, ItalySearch for more papers by this author
Emiliano Maresi

Emiliano Maresi

Istituto di Anatomia Patologica, Università di Palermo, Palermo, Italy

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Anna Maria Corrao

Anna Maria Corrao

Divisione di Chirurgia Pediatrica, Ospedale dei Bambini “G Di Cristina”, Palermo, Italy

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Ubaldo Dimita

Ubaldo Dimita

Divisione di Neonatologia, Ospedale Buccheri La Ferla, Palermo, Italy

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Manlio Lo Cascio

Manlio Lo Cascio

Divisione di Chirurgia Pediatrica, Ospedale dei Bambini “G Di Cristina”, Palermo, Italy

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Marina Cammarata

Marina Cammarata

Cattedra di Patologia Neonatale IMI, Palermo, Italy

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Liborio Giuffrè

Liborio Giuffrè

Cattedra di Patologia Neonatale IMI, Palermo, Italy

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First published: 1 December 1992
Citations: 38

Abstract

Vertebral abnormalities and anorectal and tracheoesophageal defects are the main manifestations in the VATER/VACTERL association. Radial defects vary from radial aplasia to thumb duplication. Heart and renal defects are reported with lower frequency. Additional malformations, such as the laryngeal stenosis described in the present patient, may expand the phenotype of the association. The wide spectrum of congenital abnormalities confirms the high clinical variability of VATER/VACTERL association which seems to be due to a disruption of blastogenesis. © 1992 Wiley-Liss, Inc.

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