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| CASE IMAGES |
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| Year : 2023 | Volume
: 3
| Issue : 1 | Page : 55-56 |
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Robert syndrome in an Indian neonate: A rare cause of phocomelia
Rinki Shah, Bhavya Patel
Department of Paediatrics, Government Medical College, Vadodara, Gujarat, India
| Date of Submission | 06-Dec-2022 |
| Date of Decision | 05-Jan-2023 |
| Date of Acceptance | 21-Jan-2023 |
| Date of Web Publication | 27-Feb-2023 |
Correspondence Address:
Dr. Bhavya Patel
Department of Paediatrics, Government Medical College, Vadodara, Gujarat
India
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/ipcares.ipcares_280_22
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 |
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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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.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
| References | |  |
| 1. | 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.  |
| 2. | Lazarov N, Sakarski K, Lazarov L. Roberts syndrome. Case report and literature review. Akush Ginekol (Sofiia) 2007;46:46-7. |
| 3. | 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. |
| 4. | 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. |
[Figure 1], [Figure 2]
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