Letter to the Editor
Roberts syndrome – An isolated case
C.G. Borjas-Lucio
, B.L. Briones-Bernal, H.E. Tello Gutiérrez, J.V. González
Corresponding author
ci_1987_1@hotmail.com
Corresponding author at: Hospital de Ginecología y Obstetricia SA de CV, Monterrey, Mexico.
Corresponding author at: Hospital de Ginecología y Obstetricia SA de CV, Monterrey, Mexico.
Hospital de Ginecología y Obstetricia SA de CV, Monterrey, Mexico
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"apellidos" => "Borjas-Lucio" "email" => array:1 [ 0 => "ci_1987_1@hotmail.com" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:2 [ "nombre" => "B.L." "apellidos" => "Briones-Bernal" ] 2 => array:2 [ "nombre" => "H.E." "apellidos" => "Tello Gutiérrez" ] 3 => array:2 [ "nombre" => "J.V." "apellidos" => "González" ] ] "afiliaciones" => array:1 [ 0 => array:2 [ "entidad" => "Hospital de Ginecología y Obstetricia SA de CV, Monterrey, Mexico" "identificador" => "aff0005" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author at: Hospital de Ginecología y Obstetricia SA de CV, Monterrey, Mexico." ] ] ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0015" "etiqueta" => "Figure 3" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr3.jpeg" "Alto" => 1291 "Ancho" => 1583 "Tamanyo" => 187286 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Absence of the right fibula.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">We recently had the opportunity in our state to treat a pregnant patient whose baby was diagnosed with Roberts syndrome, dying a few hours post-C-section. Several anatomical alterations were detected via ultrasound (<a class="elsevierStyleCrossRefs" href="#fig0005">Figs. 1–3</a>). Although Roberts syndrome is rare, we believe it is appropriate to recapitulate.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><elsevierMultimedia ident="fig0015"></elsevierMultimedia><p id="par0010" class="elsevierStylePara elsevierViewall">Roberts syndrome, also known as pseudothalidomide syndrome or phocomelia syndrome, is a rare pathology of genetic origin with an autosomal recessive pattern, which courses with multiple congenital malformations. It was first described by Roberts in 1919 and defined as a syndrome by Apeltz in 1966. In 1969, Herrmann described it as pseudothalidomide syndrome or phocomelia syndrome, because of the presence of shortened limbs, similar to those observed in embryopathy by thalidomide.<a class="elsevierStyleCrossRefs" href="#bib0065"><span class="elsevierStyleSup">1,2</span></a></p><p id="par0015" class="elsevierStylePara elsevierViewall">Its incidence is unknown; less than 150 cases are described in the literature to date.<a class="elsevierStyleCrossRefs" href="#bib0065"><span class="elsevierStyleSup">1,3</span></a> The affected group is diverse and spread around the world. It is characterized by pre- and post-natal growth-delay, microcephalia, a cleft palate and lip, hypoplastic nasal alae, malar hypoplasia, micrognathia, hypertelorism, intracranial aneurisms, capillary hemangioma, exophthalmos, palpebral fissures with a downward slant, dysplastic or small ears, and cataracts or cloudy cornea. Heart congenital anomalies may also occur, such as interventricular communication and patent ductus arteriosus, cystic kidneys, enlarged genitalia, oligodactyly with thumb aplasia or hypoplasia, syndactyly, or clinodactyly.<a class="elsevierStyleCrossRefs" href="#bib0065"><span class="elsevierStyleSup">1,3–5</span></a> Upper limbs are more affected than lower limbs.<a class="elsevierStyleCrossRef" href="#bib0105"><span class="elsevierStyleSup">9</span></a> There is parental consanguinity in 49% of the cases.<a class="elsevierStyleCrossRefs" href="#bib0090"><span class="elsevierStyleSup">6,7</span></a> The disease is caused by mutations of the ESCO 2 gene (establishment of cohesion of the counterpart 2), from which 26 mutations have been described to date. This gene is located in the short arm of the human chromosome 8p21.1, codifying it as an acetyltransferase involved in the regulation of the sister chromatid cohesion.<a class="elsevierStyleCrossRefs" href="#bib0065"><span class="elsevierStyleSup">1,3</span></a> Roberts syndrome has been shown to be a “mitotic mutant”.<a class="elsevierStyleCrossRef" href="#bib0100"><span class="elsevierStyleSup">8</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">At a cytogenetic level, a premature separation of heterochromatin of the centromeres is described, usually most evident in the acrocentric chromosomes and in the long arms of the Y chromosome. On the other hand, the premature separation of the centromeric heterochromatin has only been observed in 50% of the cases.<a class="elsevierStyleCrossRefs" href="#bib0070"><span class="elsevierStyleSup">2,6,10–12</span></a> The risk of recurrent disease is 25% of couples with a positive family background. Prenatal diagnosis of risky pregnancies requires an ultrasound at 12 weeks gestation; chorionic villus sampling at 8 weeks gestation will be performed in women with a high recurrence risk of Roberts syndrome. Prenatal cytogenetic analysis is conducted in the cells in the chorionic villus samplings, either amniocentesis or cordocentesis. However, a negative cytogenetic analysis does not exclude diagnosis.</p><p id="par0025" class="elsevierStylePara elsevierViewall">Prognosis is adverse. High mortality rate during the neonatal period and childhood are mainly due to cardiac or renal malformations.</p><p id="par0030" class="elsevierStylePara elsevierViewall">Intellectual disability occurs in most of the affected subjects; in some cases, intelligence can be normal. Mildly affected individuals may survive until adult age, and treatment is designed to improve quality of life.</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Funding</span><p id="par0035" class="elsevierStylePara elsevierViewall">No financial support was provided.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:2 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Funding" ] 1 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "multimedia" => array:3 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1220 "Ancho" => 1583 "Tamanyo" => 204980 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Sagittal section by ultrasound where showing the absence of the nasal bone.</p>" ] ] 1 => array:7 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 1257 "Ancho" => 1583 "Tamanyo" => 222608 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Axial cut at the heart level with the presence of membranous interventricular communication.</p>" ] ] 2 => array:7 [ "identificador" => "fig0015" "etiqueta" => "Figure 3" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr3.jpeg" "Alto" => 1291 "Ancho" => 1583 "Tamanyo" => 187286 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Absence of the right fibula.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0015" "bibliografiaReferencia" => array:12 [ 0 => array:3 [ "identificador" => "bib0065" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Síndrome de Roberts asociado con inmunodeficiencia" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:3 [ 0 => "M. 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| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 October | 49 | 2 | 51 |
| 2024 September | 96 | 18 | 114 |
| 2024 August | 79 | 8 | 87 |
| 2024 July | 72 | 5 | 77 |
| 2024 June | 67 | 4 | 71 |
| 2024 May | 87 | 23 | 110 |
| 2024 April | 85 | 11 | 96 |
| 2024 March | 121 | 13 | 134 |
| 2024 February | 106 | 9 | 115 |
| 2024 January | 75 | 28 | 103 |
| 2023 December | 121 | 16 | 137 |
| 2023 November | 124 | 20 | 144 |
| 2023 October | 112 | 8 | 120 |
| 2023 September | 86 | 2 | 88 |
| 2023 August | 80 | 5 | 85 |
| 2023 July | 74 | 7 | 81 |
| 2023 June | 82 | 5 | 87 |
| 2023 May | 107 | 10 | 117 |
| 2023 April | 78 | 12 | 90 |
| 2023 March | 101 | 3 | 104 |
| 2023 February | 68 | 14 | 82 |
| 2023 January | 97 | 10 | 107 |
| 2022 December | 79 | 2 | 81 |
| 2022 November | 108 | 8 | 116 |
| 2022 October | 62 | 6 | 68 |
| 2022 September | 138 | 9 | 147 |
| 2022 August | 94 | 16 | 110 |
| 2022 July | 54 | 11 | 65 |
| 2022 June | 52 | 9 | 61 |
| 2022 May | 82 | 16 | 98 |
| 2022 April | 57 | 7 | 64 |
| 2022 March | 119 | 19 | 138 |
| 2022 February | 57 | 6 | 63 |
| 2022 January | 110 | 11 | 121 |
| 2021 December | 72 | 9 | 81 |
| 2021 November | 103 | 13 | 116 |
| 2021 October | 102 | 16 | 118 |
| 2021 September | 82 | 18 | 100 |
| 2021 August | 96 | 9 | 105 |
| 2021 July | 50 | 8 | 58 |
| 2021 June | 98 | 9 | 107 |
| 2021 May | 139 | 20 | 159 |
| 2021 April | 244 | 22 | 266 |
| 2021 March | 122 | 11 | 133 |
| 2021 February | 68 | 10 | 78 |
| 2021 January | 86 | 12 | 98 |
| 2020 December | 96 | 16 | 112 |
| 2020 November | 86 | 6 | 92 |
| 2020 October | 57 | 8 | 65 |
| 2020 September | 63 | 11 | 74 |
| 2020 August | 73 | 11 | 84 |
| 2020 July | 47 | 6 | 53 |
| 2020 June | 58 | 17 | 75 |
| 2020 May | 73 | 13 | 86 |
| 2020 April | 58 | 4 | 62 |
| 2020 March | 59 | 8 | 67 |
| 2020 February | 52 | 15 | 67 |
| 2020 January | 46 | 4 | 50 |
| 2019 December | 45 | 9 | 54 |
| 2019 November | 35 | 7 | 42 |
| 2019 October | 44 | 13 | 57 |
| 2019 September | 52 | 13 | 65 |
| 2019 August | 27 | 4 | 31 |
| 2019 July | 37 | 11 | 48 |
| 2019 June | 75 | 12 | 87 |
| 2019 May | 130 | 43 | 173 |
| 2019 April | 103 | 18 | 121 |
| 2019 March | 18 | 7 | 25 |
| 2019 February | 31 | 10 | 41 |
| 2019 January | 18 | 5 | 23 |
| 2018 December | 8 | 0 | 8 |
| 2018 November | 23 | 6 | 29 |
| 2018 October | 15 | 5 | 20 |
| 2018 September | 14 | 8 | 22 |
| 2018 August | 5 | 3 | 8 |
| 2018 July | 18 | 7 | 25 |
| 2018 June | 12 | 6 | 18 |
| 2018 May | 17 | 19 | 36 |
| 2018 April | 13 | 0 | 13 |
| 2018 March | 30 | 3 | 33 |
| 2018 February | 19 | 4 | 23 |
| 2018 January | 16 | 0 | 16 |
| 2017 December | 20 | 4 | 24 |
| 2017 November | 23 | 3 | 26 |
| 2017 October | 24 | 7 | 31 |
| 2017 September | 1 | 5 | 6 |
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