Division of Developmental Pediatrics, Department of Pediatrics, Hospital for Sick Children, and Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada.
Am J Med Genet A. 2011 Feb;155A(2):301-6. doi: 10.1002/ajmg.a.33841.
We present two unrelated male infants with strikingly similar clinical features which have not previously been reported together. The most unusual feature was the presence of multiple small capillary malformations (port-wine stains) on the skin from birth. Both infants had intractable seizures, microcephaly with progressive cortical atrophy, severe developmental delay, dysmorphic facial features, and hypoplasia of the distal phalanges. To our knowledge, no other person with this unique constellation of features has been described.
我们介绍了两名无关联的男性婴儿，他们具有极为相似的临床特征，这些特征以前从未一起报道过。最不寻常的特征是出生时皮肤上就存在多个小的毛细血管畸形（葡萄酒色斑）。两名婴儿都有难治性癫痫发作、小头畸形伴进行性皮质萎缩、严重发育迟缓、面部畸形和远端指骨发育不良。据我们所知，没有其他人具有这种独特的特征组合。
