Literature DB >> 631853

The Roberts' syndrome.

C Waldenmaier, P Aldenhoff, T Klemm.   

Abstract

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.

Entities:  

Mesh:

Year:  1978        PMID: 631853     DOI: 10.1007/bf00272196

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  9 in total

1.  The phocomelia-thrombocytopenia syndrome. A follow-up report.

Authors:  R A Pfeiffer; C Haneke
Journal:  Humangenetik       Date:  1975

2.  The proposed international terminology for the classification of congenital limb deficiencies.

Authors:  H W Kay; H J Day; H L Henkel; L M Kruger; D W Lamb; E Marquardt; R Mitchell; A B Swanson; H G Willert
Journal:  Dev Med Child Neurol Suppl       Date:  1975

3.  The SC phocomelia and the Roberts syndrome: nosologic aspects.

Authors:  J Herrmann; J M Opitz
Journal:  Eur J Pediatr       Date:  1977-06-01       Impact factor: 3.183

4.  Tetraphocomelia and neonatal amegakaryocytic thrombocytopenia.

Authors:  R A Pfeiffer; G Maintz; C Haneke
Journal:  Humangenetik       Date:  1973

5.  [Unusual grave malformations of the mandibular arch and tongue associated with phocomelia].

Authors:  D Rosselli
Journal:  Minerva Chir       Date:  1971-08-31       Impact factor: 1.000

6.  Syndrome of phocomelia with mandibular hypoplasia.

Authors:  S R Assemany; T Kajii; L I Gardner
Journal:  Helv Paediatr Acta       Date:  1971-10

7.  Phocomelia with congenital hypoplastic thrombocytopenia and myeloid leukemoid reactions.

Authors:  P S Dignan; A M Mauer; C Frantz
Journal:  J Pediatr       Date:  1967-04       Impact factor: 4.406

8.  The tetraphocomelia -- cleft palate syndrome: description of a new case.

Authors:  F R Grosse; C Pandel; H R Wiedemann
Journal:  Humangenetik       Date:  1975-08-25

9.  A familial tetraphocomelia syndrome involving limb deformities, cleft lip, cleft palate, and associated anomalies--a new syndrome.

Authors:  K Kucheria; S K Bhargava; R Bamezai; P Bhutani
Journal:  Hum Genet       Date:  1976-08-30       Impact factor: 4.132

  9 in total
  9 in total

1.  Studies of mitotic and centromeric abnormalities in Roberts syndrome: implications for a defect in the mitotic mechanism.

Authors:  E W Jabs; C M Tuck-Muller; R Cusano; J B Rattner
Journal:  Chromosoma       Date:  1991-05       Impact factor: 4.316

Review 2.  Examination of products of conception terminated after prenatal investigation.

Authors:  S Knowles
Journal:  J Clin Pathol       Date:  1986-10       Impact factor: 3.411

Review 3.  A review of supernumerary and absent limbs and digits of the upper limb.

Authors:  Zachary Klaassen; Monica Choi; Ruth Musselman; Deborah Eapen; R Shane Tubbs; Marios Loukas
Journal:  Surg Radiol Anat       Date:  2011-11-09       Impact factor: 1.246

4.  Long-term survival after corrective surgeries in two patients with severe deformities due to Roberts syndrome: A Case report and review of the literature.

Authors:  Jing Zhou; Xiaonan Yang; Xiaolei Jin; Zhenhua Jia; Haibin Lu; Zuoliang Qi
Journal:  Exp Ther Med       Date:  2017-12-05       Impact factor: 2.447

5.  Premature centromere splitting in a presumptive mild form of Roberts syndrome.

Authors:  P Petrinelli; A Antonelli; L Marcucci; B Dallapiccola
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

6.  The Roberts syndrome.

Authors:  E O da Silva; L H Bezerra
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

7.  Mapping of a single locus capable of complementing the defective heterochromatin phenotype of Roberts syndrome cells.

Authors:  Lisa D McDaniel; Darrell J Tomkins; Eric J Stanbridge; Martin J Somerville; Errol C Friedberg; Roger A Schultz
Journal:  Am J Hum Genet       Date:  2005-05-10       Impact factor: 11.025

Review 8.  An ever-changing landscape in Roberts syndrome biology: Implications for macromolecular damage.

Authors:  Michael G Mfarej; Robert V Skibbens
Journal:  PLoS Genet       Date:  2020-12-31       Impact factor: 5.917

9.  Genetically induced redox stress occurs in a yeast model for Roberts syndrome.

Authors:  Michael G Mfarej; Robert V Skibbens
Journal:  G3 (Bethesda)       Date:  2022-02-04       Impact factor: 3.542

  9 in total

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