Title: A boy with an unusual association of ventral midline anomalies including a trunk-like umbilicus
Authors: Van Esch, Hilde ×
Mariën, Paul
De Smedt, Maryse
Fryns, Jean-Pierre #
Issue Date: Sep-2004
Publisher: Chapman & Hall
Series Title: Clinical Dysmorphology vol:13 issue:4 pages:261-3
Abstract: We report a boy with a rare association of congenital anomalies including facial dysmorphism with a very large fontanel and cleft palate, thoracic deformity, right-sided aortic arch, hypoplastic genitals, abdominal wall hypoplasia and a very rare umbilical abnormality, previously unreported. All anomalies are positioned on the midline suggesting a midline ventral developmental field defect. Different diagnoses were considered in this patient, including the pentalogy of Cantrell and Donnai-Barrow syndrome. However, none can account for all the abnormalities seen.
ISSN: 0962-8827
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Clinical Genetics Section (-)
Clinical Genetics
× corresponding author
# (joint) last author

Files in This Item:

There are no files associated with this item.

Request a copy


All items in Lirias are protected by copyright, with all rights reserved.

© Web of science