Femoral-tibial-synostosis in a child with Roberts syndrome (Pseudothalidomide): a case report

Kaissi, Ali Al; Csepan, Robert; Klaushofer, Klaus; Grill, Franz

doi:10.1186/1757-1626-1-109

Cited by 6 publications

(13 citation statements)

References 12 publications

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“…Literature reports of prenatal diagnosis of RS most frequently describe reduced fetal movements, restriction of fetal growth, and shortening of the long bones. 2,5,9,12,18,[20][21][22] In the case of prenatal diagnosis reported by Gollop et al, those findings were observed during a standard ultrasound at 21 weeks of gestation. 23 The clinical manifestations observed in our patient did not differ from the majority of RS cases described in the literature with RS (►Table 1).…”

Section: Discussionmentioning

confidence: 83%

“…5,6 Herrmann et al also used, in 1969, the term "SC Phocomelia syndrome" or "thalidomide-like syndrome" (due to similarity of the clinical findings observed in patients exposed to thalidomide during pregnancy) in the description of two European families with clinical findings similar to RS. [7][8][9][10] Tomkins et al in 1979 described a cytogenetic alteration involving the centromere, which affected most of the chromosomes of RS patients, that was later called "premature separation of the centromere" by James German. 11,12 Furthermore, it was found that individuals with RS exhibit a lack of cohesion involving the heterochromatic region of some chromosomes, those around the centromere and in the distal portion of the Y chromosome long arm (called heterochromatin repulsion [HR]).…”

Section: Introductionmentioning

confidence: 99%

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Report of the Phenotype of a Patient with Roberts Syndrome and a Rare ESCO2 Variant

et al. 2019

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Roberts syndrome is a rare autosomal recessive genetic disease. In this report, we report a Brazilian patient with a rare ESCO2 variant. The patient manifested a broad range of clinical findings including the significant, bilateral shortening of the extremities. He deteriorated and passed away at 20 days of age. High-resolution GTG-banded karyotype showed lack of centromeric constriction in some chromosomes, premature centromere separation in others, and repulsion of the heterochromatin regions. Molecular analysis of the ESCO2 gene revealed a deletion of 4 bp involving exon 4 in homozygosity (NM_00107420.2:c.875_878delACAG), which causes loss of ESCO2 function. We describe the clinical presentation caused by a rare ESCO2 variant.

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Section: Discussionmentioning

confidence: 83%

Section: Introductionmentioning

confidence: 99%

Report of the Phenotype of a Patient with Roberts Syndrome and a Rare ESCO2 Variant

et al. 2019

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“…Previous studies have reported on 17 patients with RBS who were treated with surgery ( Table I). The earliest surgeries that patients with RBS undergo are surgical cleft lip and palate repairs, which are initially performed when patients are 10 weeks of age (26). Cleft lips and palates have adverse effects on speech development, hearing, appearance, and psychology (27); therefore, it is necessary to correct these deformities.…”

Section: Surgical Treatment and Follow-up Of Rbsmentioning

confidence: 99%

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

et al. 2017

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Roberts syndrome (RBS; OMIM 268300) is a rare autosomal recessive disease characterized by retardation before and after birth, cranial and maxillofacial deformities, limb anomalies and intellectual disability. Mutations in the establishment of cohesion 1 homologue 2 () gene on chromosome 8p21.1 have been found to be causative for RBS. We describe two patients with RBS with physical deformities and ll. One is an 8-year-old Yemeni male, and the other is his 13-year-old sister. These patients were diagnosed with RBS and underwent surgeries during their first to third years of life. Here, we present the cases for the two patients, focusing specifically on their surgical management and outcomes. Additionally, by reviewing the literature on RBS, we also summarize the proper surgical interventions for this rare disease. This paper describes the long-term follow-up of two patients with severe deformities who benefitted from corrective surgeries. The findings of this study indicate that patients who survive infancy and reach adulthood, even patients who present with severe disease symptoms, can benefit from corrective surgeries and lead better lives.

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“…Pseudo thalidomide syndrome [42] is also called Robert's syndrome is a rare genetic disorder characterized by disruption of cell division leading to malformation of the bones of skull, arms and legs. The child can be born with hypomelia, oligodactyly, syndactyly, clinodactyly, cleft lip, cleft palate and micrognathia.…”

Section: Miscellaneousmentioning

confidence: 99%

"Pseudo" conditions in dermatology: Need to know both real and unreal

Kudur¹,

Hulmani²

2012

Indian J Dermatol Venereol Leprol

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There are 'n' number of names and terminologies in dermatology. The real and unreal names lead to lot of confusion to the residents and practitioners of dermatology. The word 'pseudo' means 'unreal', 'false' or 'fake', and it has deep roots in dermatology providing herculean task to differentiate and understand the real conditions/diseases/signs in dermatology. We have made an attempt to list and describe the pseudo and associated real conditions in dermatology.

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Femoral-tibial-synostosis in a child with Roberts syndrome (Pseudothalidomide): a case report

Cited by 6 publications

References 12 publications

Report of the Phenotype of a Patient with Roberts Syndrome and a Rare ESCO2 Variant

Report of the Phenotype of a Patient with Roberts Syndrome and a Rare ESCO2 Variant

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

"Pseudo" conditions in dermatology: Need to know both real and unreal

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