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Abstract

January-March 2016 | Vol. 9 | Issue 1 | Page No 2-8
A genetic syndrome that mimics congenital TORCHinfection
Neerja Gupta 1, Seema Thakur 2 ∗, Mark T Handley 3, Raj Bokaria 4, Renu Saxena 5 and Sudha Kohli 5
1Genetic Unit, Department of Paediatrics, All India Institute of Medical Sciences, New Delhi, India 2Department of Genetics and Fetal Medicine, Fortis la femme, GK II, New Delhi, India 3MRC Human Genetics Unit, Medical Research Council and Institute of Genetics and Molecular Medicine, University of Edinburgh, Scotland, UK 4Department of Obstetrics and Gynaecology, Fortis la femme, GK II, New Delhi, India 5Centre of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India
Address for Correspondence Email: seematranjan@gmail.com
 
Abstract
Warburg micro syndrome (WARBM) or Micro syndrome is a rare, genetically heterogeneous, autosomal recessive syndrome. Patients with WARBM present with severe mental retardation, brain anomalies (polymicrogyria and corpus callosum hypoplasia), craniofacial features (microcephaly, hairy forehead, large anteverted ear, broad nasal root and micrognathia), ocular defects (congenital cataract, microphthalmia and microcornea), spasticity leading to contractures, congenital hypotonia and hypogonadism. Here we report three cases of Micro syndrome from two different families. All cases had congenital cataract and were born to consanguineous parents. Hypoplastic genitalia was present in cases 2 and 3 (sibs), whereas absent in case 1. Mutation analysis of the RAB3GAP1 gene showed a nonsense mutation in exon 3 in case 1 and in exon 13 in cases 2 and 3 (sibs). Case 3, the sib of case 2, was diagnosed antenatally- initially level II antenatal ultrasound at 19 weeks gestation showed evidence of fetal cataract and further mutation analysis confirmed the affected status of the fetus. About 144 cases of Micro syndrome have been described till date world-wide in literature. These cases are the first case series of Micro syndrome from India. Our cases had all the classical clinical features described in literature, with an exception being the absence of genital abnormalities in case 1. Prominent incisors were present in both cases 1 and 2, which has not been reported earlier. Prenatal diagnosis of fetal cataract in Micro syndrome has also not been reported earlier
 
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