A boy with an unusual association of ventral midline anomalies including a trunk-like umbilicus
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Hilde Van Esch1, Paul Mariën, Maryse De Smedt
1Centre for Human Genetics, Division of Clinical Genetics, University Hospital Leuven, Herestraat 49, B-3000 Leuven, Belgium Department of Pediatrics, AZ St-Augustinus, Oosterveldlaan 24, B-2610 Wilrijk, Belgium.
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.
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