Waldenmaier C, Aldenhoff P, Klemm T
Hum Genet. 1978 Feb 16;40(3):345-9. doi: 10.1007/BF00272196.
A report is given on a small-for-date male infant showing the following symptoms: bilateral aplasia of humerus, radius, and ulna, shortened femora, bilateral cleft lip and cleft palate, stigmata of dysmorphism, and notably; simple helix formation of the ear, simian crease, clinodactylia, bilateral clubfoot deformity, hypospadia, thrombocytopenia, micrognathia, and contractures in the knee joints. Postmortem autopsy revealed horsehoe kidney, ureterstenosis with hydronephrosis, persistent branchial arches, and absence of the knee joints. Chromosome analysis results performed by G-band technique turned out normal. This, obviously, was a case of the so-called Roberts' syndrome. Our results were compared with the relevant literature and some particularities were emphasized. The question was discussed as to whether the SC-phocomelia (pseudothalidomid syndrome), the TAR syndrome, and reported single cases might be an identical syndrome.
报告了一名小于胎龄男婴,其表现出以下症状:双侧肱骨、桡骨和尺骨发育不全,股骨缩短,双侧唇腭裂,畸形特征,尤其是;耳轮简单形成,猿掌纹,小指内翻,双侧马蹄内翻足畸形,尿道下裂,血小板减少,小颌畸形,以及膝关节挛缩。尸检显示马蹄肾、输尿管狭窄伴肾积水、持续性鳃弓和膝关节缺如。采用G带技术进行的染色体分析结果正常。显然,这是一例所谓的罗伯茨综合征病例。我们的结果与相关文献进行了比较,并强调了一些特殊性。讨论了SC-短肢畸形(假沙利度胺综合征)、TAR综合征以及报告的个别病例是否可能是同一综合征的问题。