E-viri
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Swartz, Erik N.; Sanatani, Shubhayan; Sandor, George G.S.; Schreiber, Richard A.
American journal of medical genetics, 01/1999, Letnik: 82, Številka: 1Journal Article
We describe a young girl diagnosed with the Adams‐Oliver syndrome (AOS) associated with double outlet right ventricle, portal hypertension, and pulmonary hypertension. We hypothesize that a congenital vascular abnormality is the underlying pathogenesis and that the cutaneous defects characteristically seen in AOS represent the most common manifestation of this. We suggest that AOS should not merely be considered a syndrome consisting of aplasia cutis congenita and terminal transverse limb defects but rather a constellation of clinical findings resulting from an early embryonic vascular abnormality. Am. J. Med. Genet. 82:49–52, 1999. © 1999 Wiley‐Liss, Inc.
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