da-Silva E O, Duarte A R, Andrade E J, Furtado G J
Department of Genetics, Federal University of Pernambuco, Instituto Materno-Infantil de Pernambuco, Recife, PE, Brazil.
Clin Dysmorphol. 1998 Jan;7(1):75-6.
An apparently new case of the acromegaloid facial appearance syndrome is reported. The main clinical findings were coarse facies and thickened lips, oral mucosa and upper eyelids. The patient also had macrocephaly with an arachnoid cyst in the right middle fossa, an anomaly not previously described in association with this syndrome.
报告了一例明显的类肢端肥大面容综合征新病例。主要临床发现为面容粗糙、嘴唇增厚、口腔黏膜增厚及上睑增厚。该患者还存在巨头畸形,右侧中颅窝有蛛网膜囊肿,这是此前未与该综合征相关联描述过的一种异常情况。