Summary
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 horseshoe 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 especially 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.
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Waldenmaier, C., Aldenhoff, P. & Klemm, T. The Roberts' syndrome. Hum Genet 40, 345–349 (1978). https://doi.org/10.1007/BF00272196
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DOI: https://doi.org/10.1007/BF00272196