Rectal atresia as rare manifestation in EEC syndrome.
A newborn boy presented with bilateral split hand/foot malformation, sparse hair, dry and scaly skin, and nasolacrimal duct obstruction. Despite absence of cleft lip or palate, the findings fit the EEC syndrome. Additionally, the boy had rectal atresia. At least six further patients with EEC syndrome and anal atresia (two published, four unpublished) demonstrate, that anorectal malformation is a further, but rare anomaly in EEC syndrome.
Majewski
F
F
Institute of Human Genetics, Düsseldorf, Germany.
Goecke
T
T
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D001003:Anal Canal / Q000002:abnormalities; D005260:Female; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007409:Intestinal Atresia / Q000000981:diagnostic imaging / Q000235:genetics*; D008297:Male; D009679:Nuclear Family; D011859:Radiography; D012007:Rectum / Q000002:abnormalities*; D013577:Syndrome