Hennekam R C, Vermeulen-Meiners C
Clinical Genetics Center Utrecht, The Netherlands.
J Med Genet. 1989 Jan;26(1):55-8. doi: 10.1136/jmg.26.1.55.
A boy with intrauterine growth retardation, microcephaly, dysostosis of the skull, hypoplastic facial bones, labiogingival retraction, agenesis of the clavicles, distal aphalangia, and severely hypoplastic thumbs and halluces is described. The features are consistent with the Yunis-Varon syndrome. Review of published reports shows this to be a generalised disorder with variable manifestations in the skeletal, ectodermal, and cardiovascular systems. The consanguinity of the parents of the present case is in agreement with autosomal recessive inheritance.
描述了一名患有宫内生长迟缓、小头畸形、颅骨发育异常、面骨发育不全、唇龈退缩、锁骨缺如、指骨远端发育不全以及拇指和拇趾严重发育不全的男孩。这些特征与尤尼斯 - 瓦伦综合征相符。对已发表报告的回顾表明，这是一种全身性疾病，在骨骼、外胚层和心血管系统中具有多种表现。本病例父母的近亲关系符合常染色体隐性遗传。
