Galván C, Domenech E, Méndez A
An Esp Pediatr. 1979 Aug-Sep;12(8-9):431-4.
A rare polymalformative syndrome is described, consisting in multiple joints dislocations, peculiar face, deformations of the hands and feet, abnormal pattern of the palms creases and congenital heart defect. New findings not reported before were: choanal atresia, agenesia of the right kidney and gall bladder and hypoplasic male genitals.
描述了一种罕见的多畸形综合征，其特征为多关节脱位、特殊面容、手足畸形、手掌褶皱异常和先天性心脏缺陷。此前未报道的新发现有：后鼻孔闭锁、右肾和胆囊缺如以及男性生殖器发育不全。
