Encephalocele, radial defects, cardiac, gastrointestinal, anal, and renal anomalies: a new multiple congenital anomaly (MCA) syndrome?
We present two unrelated female patients with a complex pattern of congenital malformations including encephalocele, oesophageal atresia, abnormal lung lobation, congenital heart defects, anal anomalies, liver, spleen and radial defects. Clinical variability between the two cases can be seen as a result of variable expression. The pattern of anomalies in these two unrelated patients suggest that they may represent the same, as yet unknown, syndrome.
Froster-Iskenius
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Klinik für Frauenheilkunde und Geburtshilfe, Medizinische Universität zu Lübeck, Germany.
Meinecke
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D000015:Abnormalities, Multiple; D001003:Anal Canal / Q000002:abnormalities; D001132:Arm / Q000002:abnormalities; D004677:Encephalocele; D004947:Esophagus / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D008099:Liver / Q000002:abnormalities; D008168:Lung / Q000002:abnormalities; D013154:Spleen / Q000002:abnormalities; D013577:Syndrome