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Year : 2023  |  Volume : 3  |  Issue : 1  |  Page : 55-56

Robert syndrome in an Indian neonate: A rare cause of phocomelia

Department of Paediatrics, Government Medical College, Vadodara, Gujarat, India

Date of Submission06-Dec-2022
Date of Decision05-Jan-2023
Date of Acceptance21-Jan-2023
Date of Web Publication27-Feb-2023

Correspondence Address:
Dr. Bhavya Patel
Department of Paediatrics, Government Medical College, Vadodara, Gujarat
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ipcares.ipcares_280_22

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How to cite this article:
Shah R, Patel B. Robert syndrome in an Indian neonate: A rare cause of phocomelia. Indian Pediatr Case Rep 2023;3:55-6

How to cite this URL:
Shah R, Patel B. Robert syndrome in an Indian neonate: A rare cause of phocomelia. Indian Pediatr Case Rep [serial online] 2023 [cited 2023 Mar 22];3:55-6. Available from: http://www.ipcares.org/text.asp?2023/3/1/55/370537

A preterm boy born at 36-week gestation was admitted within an hour of birth with multiple anomalies. Delivery was by cesarean section, the indication being previous sections. No resuscitation was required. He was the third issue of a nonconsanguineous couple with no significant family history. There was no history of teratogen exposure during pregnancy. At the presentation, his vitals were stable. The weight was 1.7 kg (<−3 Z score), length 35 cm (<−3 Z score), and head circumference 31 cm (0 to −2 Z score). The baby had a bilateral cleft lip, complete cleft palate, bilateral symmetrical lower limb phocomelia with planovalgus feet abnormality, and cryptorchidism [Figure 1]. Apart from a sacral dimple, there were no gross spinal anomalies. After initial stabilization, multidisciplinary management was planned. The infantogram revealed a bilateral absence of the tibia and fibula [Figure 2]. Magnetic resonance imaging (brain and spine), echocardiography, and abdominal ultrasonography were normal. The clinical phenotype of typical limb and facial anomalies suggested Robert syndrome. The baby was started on orogastric feeds and shifted to spoon feeding after the placement of an obturator. At discharge, he was referred for a genetic consultation.
Figure 1: Newborn with bilateral cleft lip, phocomelia of bilateral lower limbs, and planovalgus deformities in the feet

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Figure 2: Infantogram showing bilateral absence of tibia and fibula

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Robert syndrome is an autosomal recessive disorder caused by a homozygous mutation in the ESCO2 gene on chromosome 8p21.[1],[2] It is rare, with around 150 cases reported.[3] Clinical manifestations include fetal growth restriction, limb reduction (tetraphocomelia/biphacomelia), craniofacial anomalies (macrocephaly, shallow orbits, hypertelorism, facial clefting defects, and hypoplastic nasal alae), cryptorchidism, and involvement of the renal (polycystic, dysplastic, or horseshoe kidneys), cardiovascular, and central nervous systems (i.e., ventriculomegaly, cephalocele, or spina bifida). Diagnosis is established by molecular testing. Close differential diagnoses based on physical attributes include Cornelia de Lange syndrome (typical facies and asymmetrical limb defects),[4] thrombocytopenia-absent radius syndrome, and Baller–Gerold syndrome (craniosynostosis, facial malformations, and the absence of radius or ulna).[2]

Declaration of patient consent

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

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Conflicts of interest

There are no conflicts of interest.

  References Top

Dogan M, Firinci F, Balci YI, et al. The Roberts syndrome: A case report of an infant with valvular aortic stenosis and mutation in ESCO2. J Pak Med Assoc 2014;64:457-60.  Back to cited text no. 1
Lazarov N, Sakarski K, Lazarov L. Roberts syndrome. Case report and literature review. Akush Ginekol (Sofiia) 2007;46:46-7.  Back to cited text no. 2
Goh ES, Li C, Horsburgh S, et al. 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. 3
Grau Carbó J, López Jiménez J, Giménez Prats MJ, Sànchez Molins M. Cornelia de Lange syndrome: a case report. Med Oral Patol Oral Cir Bucal 2007;12:E445-8.  Back to cited text no. 4


  [Figure 1], [Figure 2]


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