Fryssira Helen, Papathanassiou Miltiadis, Barbounaki Joanna, Orfanou Irene, Lagona Evangelia, Paikos Peter
Medical Genetics, University of Athens, Choremio Research Laboratory, Athens, Greece.
Clin Dysmorphol. 2002 Oct;11(4):277-81. doi: 10.1097/00019605-200210000-00009.
Focal dermal hypoplasia (FDH) or Goltz syndrome is a rare clinical syndrome presenting with cutaneous, skeletal, dental, ocular, central nervous system and soft-tissue defects. We report on a male infant with characteristic skin defects of the face, trunk and extremities, polysyndactyly and unusual ocular and brain findings. He had sclerocornea of the right eye, anterior persistent hyperplastic primary vitreous of the left eye and hydrocephalus. Clinical findings support the diagnosis of Goltz syndrome. The clinical picture of Goltz syndrome is compared with that of MIDAS syndrome.
局灶性真皮发育不全（FDH）或戈尔茨综合征是一种罕见的临床综合征，表现为皮肤、骨骼、牙齿、眼睛、中枢神经系统和软组织缺陷。我们报告了一名男婴，其面部、躯干和四肢有典型的皮肤缺陷、多指畸形以及不寻常的眼部和脑部表现。他右眼患有巩膜角膜、左眼患有前部持续性增生性原发性玻璃体以及脑积水。临床发现支持戈尔茨综合征的诊断。将戈尔茨综合征的临床表现与MIDAS综合征的临床表现进行了比较。
