A boy with an unusual association of ventral midline anomalies including a trunk-like umbilicus.
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.
Esch
Hilde Van
HV
Centre 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.
Mariën
Paul
P
De Smedt
Maryse
M
Fryns
Jean-Pierre
JP
D034861:Abdominal Wall / Q000002:abnormalities*; D001011:Aorta / Q000002:abnormalities; D019465:Craniofacial Abnormalities / Q000503:physiopathology*; D005837:Genitalia, Male / Q000002:abnormalities; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D035441:Thoracic Wall / Q000002:abnormalities*; D014472:Umbilicus / Q000002:abnormalities*