Chrzanowska Krystyna, Kowalska Aleksandra, Koziowski Kazimierz
Department of Human Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
Clin Dysmorphol. 2002 Apr;11(2):103-5. doi: 10.1097/00019605-200204000-00005.
We report an 8-year-old boy with a distinctive facial phenotype, deformities of fingers and toes and limitation of knee movement of unknown etiology. He had a round face, a long nose, a thin upper lip, a small mouth and micrognathia. In spite of microcephaly and retarded speech development secondary to hearing loss his mental development was within normal limits. The most distinctive radiographic abnormality was hypoplasia of the distal end of the middle phalanges with radial deviation of the distal phalanges.
我们报告一名8岁男孩，具有独特的面部表型、手指和脚趾畸形以及病因不明的膝关节活动受限。他圆脸、长鼻、上唇薄、小嘴且小颌。尽管因听力丧失继发小头畸形和言语发育迟缓，但他的智力发育在正常范围内。最显著的影像学异常是中节指骨远端发育不全，伴有远节指骨向桡侧偏斜。
