Majewski F, Goecke T
Institute of Human Genetics, Düsseldorf, Germany.
Am J Med Genet. 1996 May 3;63(1):190-2. doi: 10.1002/(SICI)1096-8628(19960503)63:1<190::AID-AJMG33>3.0.CO;2-H.
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 At least six further patients with EEC syndrome and anal atresia (two published, four unpublished) demonstrate, that anorectal malformation is a further, but rare anomaly in EEC syndrome.
一名男婴出生时患有双侧裂手/裂足畸形、头发稀疏、皮肤干燥且有鳞屑，以及鼻泪管阻塞。尽管没有唇腭裂，但这些表现符合EEC综合征。此外，该男婴还患有直肠闭锁。至少还有另外六例患有EEC综合征和肛门闭锁的患者（两例已发表，四例未发表）表明，肛肠畸形是EEC综合征中另一种但较为罕见的异常情况。
