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Multiple Congenital Abnormalities
Shweta Mishra, Piyush Chandel, Supriya Bisht.
Department of Neonatology, Fortis Hospital, Noida, Uttar Pradesh, India.
ADDRESS FOR CORRESPONDENCE
Dr. Shweta Mishra, 8/101, Shakti Kunj Apartment, B9/3, Sec 62, Noida, Uttar Pradesh, India.
Email: shwetapaed@gmail.com
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What is the syndrome?
Karyotype analysis of the patient revealed 46 XY, del (13q22 -32). It is also known as Orbeli syndrome based on the Russian physician who described the syndrome in 1971. It is a partial monosomy involving the long arm of chromosome 13. Patient presents with varying phenotypic features as per deleted band of the chromosome 13q and are classified into 3 groups. Deletions involving chromosome 13 proximal to q32 band can result in phenotypes such as mild mental retardation, growth delay and various dysmorphic features. When loci of q32 gets deleted, it leads to severe congenital malformations including brain anomalies. titers form is deletion distal to q32 which leads to severe mental retardation, but no brain malformation or growth delay.1,2 The ZIC2 (zinc finger protein of cerebellum 2) gene has been mapped in this region and absence of it by deletion is considered to lead to brain anomaly like holoprosencephaly.
Various clinical features of this syndrome are low birth weight, growth failure, psychomotor retardation, craniofacial abnormalities, microcephaly, brachycephaly, hypertelorism, upslanting palpebral fissures, high arched palate, coloboma, prominent nasal bridge, clinodactyly, syndactyly, dislocation of hips, a , congenital heart disease, renal abnormalities, cryptorchidism, hypospadias and anal atresia.2 There is no specific treatmentwas given exact an is unknown. Children with 13q deletion syndrome should be followed up continuously by a neurologist, pediatric surgeon, and a rehabilitation physician, who can also coordinate interventions with different specialists. |
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Funding: None
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Conflict of Interest: None
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- Brown S, Gersen S, Anyane-Yeboa K, Warburton D. Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature. Am J Med Genet. 1993; 45: 52-9. [CrossRef] [PubMed]
- Brown S, Russo J, Chitayat D, Warburton D. The 13q- syndrome: the definition of a critical deletion region in band 13q32. Am J Hum Genet. 1995; 57: 859–66 [PubMed] [PMC free article]
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DOI: https://doi.org/10.7199/ped.oncall.2019.7 |
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Cite this article as:
Mishra S, Chandel P, Bisht S. Multiple Congenital Abnormalities (Orbeli Syndrome). Pediatr Oncall J. 2019;16: 27. doi: 10.7199/ped.oncall.2019.7
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