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1.
Indian Pediatr ; 2013 October; 50(10): 965-966
Artigo em Inglês | IMSEAR | ID: sea-170012

RESUMO

Citrullinemia type 1 was diagnosed by tandem mass spectrometry in a full term male neonate who presented with an acute catastrophic collapse on the 3rd day of life. Both parents were identified to be carriers for the exon 15 p Gly390Arg mutation in the argininosuccinate synthetase gene located at chromosome 9q34.1. Chorionic villus sampling and prenatal genetic testing in the subsequent pregnancy revealed an affected fetus resulting in termination of pregnancy.

2.
Artigo em Inglês | IMSEAR | ID: sea-156324

RESUMO

Biotinidase deficiency is a rare metabolic disorder which can cause dermatological manifestations and lead to severe neurological sequelae if untreated. Holocarboxylase synthetase deficiency also has similar manifestations and needs to be differentiated. We present a neonate who had atypical early onset symptoms and was diagnosed to have biotinidase deficiency.


Assuntos
Alopecia/etiologia , Deficiência de Biotinidase/complicações , Deficiência de Biotinidase/diagnóstico , Deficiência de Biotinidase/genética , Evolução Fatal , Feminino , Humanos , Ictiose/etiologia , Recém-Nascido , Convulsões/etiologia
3.
Indian Pediatr ; 2011 July; 48(7): 559-561
Artigo em Inglês | IMSEAR | ID: sea-168886

RESUMO

Cartilage-hair hypoplasia is a rare, autosomal recessive skeletal dysplasia, caused by mutations in the RMRP gene. The skeletal abnormalities include irregular metaphyses and cone shaped epiphyses of the hands. Molecular diagnosis confirmed two novel RMRP mutations in a compound heterozygous state in two siblings with this condition.

4.
Indian J Pediatr ; 2008 Jun; 75(6): 629-31
Artigo em Inglês | IMSEAR | ID: sea-82908

RESUMO

Triple X syndrome is a rare numerical chromosomal anomaly, occurring as a result of non dysjunction in meiosis I. Most cases have neurodevelopmental defects and functional problems. We report two cases diagnosed in our centre. The first was a fetus with cleft lip and palate, 47, XXX was identified by Fetal Blood Sampling. The second was a child with multisystem anomaly including cleft lip and palate, whose karyotype also revealed 47, XXX. Though isolated cases of associated abnormalities have been reported there have not been consistent phenotypic changes reported with this condition.


Assuntos
Anormalidades Múltiplas/genética , Adulto , Criança , Cromossomos Humanos X/genética , Fenda Labial/genética , Fissura Palatina/genética , Feminino , Humanos , Cariotipagem , Fenótipo , Gravidez , Aberrações dos Cromossomos Sexuais , Ultrassonografia Pré-Natal
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