The Roberts syndrome

Silva, Elias O. da; Bezerra, Lúcia H. G. E.

doi:10.1007/bf00276604

Cited by 12 publications

(4 citation statements)

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“…Aggressive medical intervention that is; correcting cleft lip and palate, correcting orthopaedic deformities and nutritional rehabilitation is suggested along with parental counselling. 2 The unique cytogenetic abnormality called premature centromere separation which disrupts the process of chromatid pairing, is responsible for the development of multiple structural anomalies found in Robert SC Syndrome. Premature centromere separation has been reported in lymphocytes and/or fi broblasts from patients whose clinical phenotypes cover the range of the Roberts syndrome, from a severe variant to SC phocomelia syndrome at the milder end.…”

Section: Discussionmentioning

confidence: 99%

A Child with Roberts Syndrome: A Case Report

Sharma¹,

Sharma²,

Bista³

et al. 2017

Nep J Neurosci

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Roberts syndrome is a genetically determined rare birth defect causing, skeletal deformities, particularly symmetrical limb reduction and craniofacial anomalies. For any child with limb and craniofacial bony malformations, this syndrome should be considered in the differentials. Although this syndrome represents only a small proportion of the total number of individuals with limb defi ciency, it is important to be identified in order to give accurate genetic counseling including recurrence risk in siblings and possible prenatal diagnosis. This is the case report of a 9 year old female child who presented with defective development of all four extremities and craniofacial abnormalities. The overall clinical and radiological features were suggestive of Roberts syndrome. Nepal Journal of Neuroscience, Vol. 14, No. 2, 2017 Page: 39-42

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Section: Discussionmentioning

confidence: 99%

A Child with Roberts Syndrome: A Case Report

Sharma¹,

Sharma²,

Bista³

et al. 2017

Nep J Neurosci

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“…All of these patients had tetraphocomelia, a common finding in Roberts syndrome. Some patients (3/11) had consanguineous parents and affected sibs without that finding [Zergollern and Hitrec, 1982;da Silva and Bezerra, 1982]. Further patients (3/11) were mentally retarded [Herrmann et al, 1969;Grosse et al, 1975;Tomkins et , 1979].…”

Section: Discussionmentioning

confidence: 99%

Bilaterally cleft lip, limb defects, and haematological manifestations: Roberts syndrome versus TAR syndrome

et al. 1998

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We report on a 13-year-old patient followed since birth. He is the only offspring of young, non-consanguineous German parents. His mother has an isolated left cleft of lip and a cleft palate. At birth, our patient presented with bilaterally cleft lip/cleft palate, phocomelia of upper limbs with normal hands, and mild symmetrical deficiencies of the long bones of the lower limbs. Haematological evaluation demonstrated a leukaemoid reaction during a urinary tract infection as well as intermittent thrombocytopenia and episodes of marked eosinophilia during the first two years of life. Intellectual development has been normal. Comparison with two similar cases from the literature suggests a non-random phenotypic overlap of Roberts syndrome (MIM 268300) and TAR syndrome (MIM 274000). Such clinical constellations may be key observations to understand the genetic relationship of Roberts syndrome and TAR syndrome in future phenotype-genotype correlations.

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“…Some patients have glabellar vascular stains. 85,86 Patients who share features that overlap between thrombocytopeniae absent radius (TAR) syndrome and this disorder have been described (see ''ThrombocytopeniaeAbsent Radius Syndrome,'' below). 87 Cytogenetic studies of some patients have shown consistent chromosomal abnormalities, including premature centromere separation and centromere splitting and puffing.…”

Section: Adams-oliver Syndromementioning

confidence: 98%