An unusual combination: aortic arch coarctation associated with Dandy-Walker variant.
We report on a 29-year-old woman with aortic arch coarctation with cerebral anomalies including posterior fossa cyst, hydrocephalus, cerebellar vermis hypoplasia and multiple congenital anomalies including hirsutism, hipotelorism, shortened philtrum, unregulated teeth and short alveolar crest, rotated auricles, short and webbed neck, hypopigmentation on the scalp, bilateral clinodactyly, bilateral hallux valgus, brachydactyly on the left foot 3rd finger, hemangioma on the sacrum. An extra-anatomical bypass was made by grafting from the ascending to the distal descending aorta. Some of these features are consistent with the diagnosis of the other clinical syndromes except genetical expression, no chromosomal deletions in our patient with normal familial pedigree, however, cerebral anomalies are consistent with the Dandy-Walker variant. To the best of our knowledge, literature contains no other report of the association of aortic coarctation, Dandy-Walker variant with these clinical features. These previously undescribed combinations, however, raise the possibility of a newly recognized disorder.
Akgul
Ahmet
A
Babaroglu
Seyhan
S
Bahar
Ilknur
I
Bokesoy
Isik
I
Birincioğlu
Levent
L
Cobanoglu
Adnan
A
D000015:Abnormalities, Multiple; D000368:Aged; D000792:Angiography; D001017:Aortic Coarctation / Q000175:diagnosis* / Q000601:surgery; D006348:Cardiac Surgical Procedures / Q000379:methods; D003616:Dandy-Walker Syndrome / Q000175:diagnosis*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008279:Magnetic Resonance Imaging