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Year : 2022  |  Volume : 9  |  Issue : 2  |  Page : 177-179

A child with Roberts syndrome presenting severe craniofacial anomaly

Department of Oral and Maxillofacial, Hospital Madre Rafols, Maracaibo, Venezuela

Date of Submission15-Sep-2021
Date of Acceptance16-Dec-2021
Date of Web Publication23-Aug-2022

Correspondence Address:
Dr. Betsabe Sarcos
Oral and Maxillofacial Surgery Unit, Hospital Madre Rafols, Maracaibo
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jclpca.jclpca_32_21

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Roberts syndrome is a rare congenital anomaly which was described by John Roberts in 1919, also known as pseudothalidomidic or phocomelia. Characterized by skeletal deformities, in particular symmetric reduction of the extremities and craniofacial anomalies such as cleft lip and palate and cranio synostosis presenting more frequently, as well as bilateral symmetric short neck tetraphocomelia or hypomelia and brachydactyly. Its prevalence is unclear. As of now, 150 cases of different racial and ethnic origins have been reported in the literature. The diagnosis of Roberts Syndrome is established by cytogenetic and molecular analysis which show a phenomenon known as premature separation of the centromere or heterochromatin repulsion, constituting the main marker for Roberts syndrome. For any child with limb and craniofacial bone malformations, this syndrome should be considered as a differential diagnosis. The purpose of this study is to present a clinical case of a 2-year-old patient with Roberts Syndrome with a marked craniofacial anomaly.

Keywords: Autosomal recessive, craniofacial anomaly, Roberts syndrome, tetraphocomelia

How to cite this article:
Solano N, Sierralta M, Ramos S, Sarcos B. A child with Roberts syndrome presenting severe craniofacial anomaly. J Cleft Lip Palate Craniofac Anomal 2022;9:177-9

How to cite this URL:
Solano N, Sierralta M, Ramos S, Sarcos B. A child with Roberts syndrome presenting severe craniofacial anomaly. J Cleft Lip Palate Craniofac Anomal [serial online] 2022 [cited 2022 Dec 8];9:177-9. Available from: https://www.jclpca.org/text.asp?2022/9/2/177/354293

  Introduction Top

Roberts syndrome is a rare autosomal recessive developmental disorder characterized by prenatal and postnatal growth retardation, distinctive craniofacial abnormalities, and limb defects.[1] It is named after John Roberts, who first reported a case of a male infant with bilateral cleft lip and tetraphocomelia in 1919.[2] Karyotype studies in affected patients reveal that this syndrome is caused by premature centromere separation, also known as heterochromatin repulsion or swelling. The syndrome is caused by mutations in the establishment of sister chromatid cohesion N-acetyltransferase 2 (ESCO2), which is found in 8p21.1 and encodes a protein essential to establish cohesion of sister chromatids during S phase.[3],[4] Currently, an estimated only 100 cases have been reported in the literature. In this study, we describe a unique case of a child with a diagnosis of Roberts syndrome presenting a marked craniofacial malformation.

  Case Report Top

A 2-year-old infant was presented by his mother for presenting multiple congenital malformations in the craniofacial region and extremities [Figure 1]. He was the third child of healthy parents without a history of consanguineous marriage. The physical examination showed severe cranial deformity with a tendency to turricephaly, with marked depression at the coronal suture, giving the head a bilobed shape. Loss of the normal morphology of the structures of the face was appreciated: misconfigured and scattered eyebrows and eyelashes, bilateral palpebral cleft with exposed eyeball on the right side, absence of eyelids, complete bilateral cleft lip and palate. Reduction defects of the upper limbs were observed, right upper limb with mesomelic reduction (radio-ulnar hypoplasia) and absence of the thumb. At the level of the wrist joint, arthrogryposis was observed [Figure 2]. The lower limbs had no dysmorphism. A peripheral blood sample was taken for the purpose of a chromosomal study (karyotype), confirming the diagnosis of Roberts syndrome.
Figure 1: Clinical image of the patient depicting severe craniofacial malformation

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Figure 2: Image of the right upper limb showing mesomelic reduction and thumb aplasia

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A peripheral blood sample was taken for the purpose of a chromosomal study (karyotype) and through genetic evaluation, the diagnosis of Roberts syndrome was confirmed.

Pre-surgical treatment was carried out with pediatric dentistry and maxillary orthopedic services, which consisted of advice on oral and food hygiene, design, and manufacture of prostheses to stimulate the growth and development of the stomatognathic system.

In this case, through a multidisciplinary approach with the neurosurgery and ophthalmology services, reconstructive surgery will be carried out in two phases. The first surgical phase will consist of reconstruction of the anterior cranial fossa with a costal graft and fronto-orbital advancement; tarsorrhaphy in the right eye and blepharoplasty in the left eye to subsequently evaluate visual function. In the second surgical phase, closure of facial clefts.

  Discussion Top

Roberts syndrome is an autosomal recessive developmental disorder initially described by John Roberts in affected siblings of an Italian consanguineous couple.[5] Herrmann et al. reported similar but milder malformations called SC phocomelia.[6] These two conditions are considered the same syndrome with variable phenotypic expression.[5]

The clinical characteristics of this syndrome indicate that it is accompanied by abnormalities in the extremities (bilateral symmetric tetraphocomelia or hypomelia in which mesomelic shortening, aplasia or hypoplasia of the thumb and oligodactyly, syndactyly, clinodactyly and flexion contractures in the wrist and knee can be observed), craniofacial alterations (microcephaly or cleft lip and palate) and delayed cardiac, renal and neurological development that progresses from mild to severe levels during the prenatal and postnatal periods.[4],[7] The malformations observed in our case suggested the presence of a syndromic malformation with characteristics typical of Roberts syndrome. Among the findings, there was severe craniofacial deformity, complete bilateral cleft lip and palate, as well as deficits in the development of the extremities, observing the right upper limb with mesomelic reduction (radio-ulnar hypoplasia) and absence of the thumb.

There are severe cases that do not survive early childhood and it is possible that some severe cases fail to overcome pregnancy. The incidence of carrying Roberts syndrome and the prevalence of the disease are unknown, and only about 150 cases have been reported so far.[3],[7]

Mutations in an evolutionarily conserved gene, ESCO2, are implicated in the etiology of Roberts syndrome. All patients studied to date have biallelic mutations of the ESCO2 gene. From the 26 mutations reported so far, all but 1 resulted in the total or partial loss of the C-terminal acetyltransferase domain of the ESCO 1 protein.[8]

The diagnosis of Roberts syndrome is established by cytogenetic and molecular analysis. At the cytogenetic level, chromosomes are presented with a rod-shaped morphology that results in a “railroad track” appearance due to the absence of primary constriction in the centromeric regions and with heterochromatin repulsion, especially of chromosomes 1, 9, 16, the acrocentrics, and the distal segment of the long arm of the Y chromosome. This phenomenon known as premature separation of the centromere or heterochromatin repulsion constitutes the main diagnostic marker for Roberts syndrome.[5],[8],[9] In the present case, the cytogenetic findings with early separation of the sister chromatids are supported by the clinical diagnosis.

Individualized treatment is aimed at improving quality of life, cleft lip and palate surgery, correction of limb abnormalities, and to enhance the proper development of basic hand and forceps functions. After assessing each case, the placement of an ortho-prosthesis should be considered, as well as the evaluation of language development and, where appropriate, therapy for it. Stimulation and rehabilitation for developmental delays, as well as standard treatment for heart defects and kidney anomalies, ought to be indicated.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient (s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

McKay MJ, Craig J, Kalitsis P, Kozlov S, Verschoor S, Chen P, et al. A Roberts syndrome individual with differential genotoxin sensitivity and a DNA damage response defect. Int J Radiat Oncol Biol Phys 2019;103:1194-202.  Back to cited text no. 1
Rajan K, Sharma A. Child with Roberts syndrome: A case report. Nepal J Neurosci 2017;14:39-42.  Back to cited text no. 2
Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, et al. Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. Nat Genet 2005;37:468-70.  Back to cited text no. 3
Goh ES, Li C, Horsburgh S, Kasai Y, Kolomietz E, Morel CF. The Roberts syndrome/SC phocomelia spectrum – A case report of an adult with review of the literature. Am J Med Genet A 2010;152A: 472-8.  Back to cited text no. 4
Gordillo M, Vega H, Trainer AH, Hou F, Sakai N, Luque R, et al. The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. Hum Mol Genet 2008;17:2172-80.  Back to cited text no. 5
Herrmann J, Feingold M, Tuffli GA, Opitz JM. A familial dysmorphogenetic syndrome of limb deformities, characteristic facial appearance and associated anomalies: The 'pseudothalidomide' or 'SC-syndrome'. Birth Defects Orig Art Ser 1969;5:81-9.  Back to cited text no. 6
Ayaz R, Göktaş E, Balasar M, A case of Roberts syndrome: Its ultrasonographic characteristics and genetic diagnosis. Perinatal J 2020;28:212-6.  Back to cited text no. 7
Louie E, German J. Roberts's syndrome. II. Aberrant Y-chromosome behavior. Clin Genet 1981;19:71-4.  Back to cited text no. 8
Vega H, Trainer AH, Gordillo M, Crosier M, Kayserili H, Skovby F, et al. Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome. J Med Genet 2010;47:30-7.  Back to cited text no. 9


  [Figure 1], [Figure 2]


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