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1.
Artigo em Inglês | IMSEAR | ID: sea-170971

RESUMO

A prospective study consisting of 50 infants having spina bifida and cranium bifidum and relationship of hydrocephalus was carried out. The male preponderance was obvious (1.7:1) with majority of infants being less than 3 months. The presenting complaint in almost all the children was swelling on back or head. Lumbar spine was affected most commonly with 36% children having lesion at this site followed by lumbosacral (20%) and occiptal (16%). Neuromuscular deficit was present in 32% cases. Clinical evidence of hydrocephalus was seen in 22% children. X-ray skull was suggestive of hydrocephalus in 22% cases. Ultrasound examination of skull confirmed the diagnosis in 52% cases. Hydrocephalus had no specific relationship with site of lesion. It was more commonly associated with neurological deficit. Sonographic examination is relatively cheaper and invaluable investigation. and should be done routinely in patients with spina bifida.

2.
Journal of the Korean Child Neurology Society ; (4): 385-390, 2003.
Artigo em Coreano | WPRIM | ID: wpr-107756

RESUMO

Robinow syndrome is a rare inherited disorder initially reported by Robinow et al. in 1969 as a new dwarfing syndrome. It is characterized by the presence of fetal face, forearm shortening, genital hypoplasia, and hemivertebrae. The autosomal recessive form of Robinow syndrome shows a more severe clinical phenotype which is expressed by the mutation of homozygous ROR2(Receptor tyrosine kinase like Orphans) gene, mapped to the chromosome 9q22, a region that overlaps the locus for autosomal dominant inherited brachydactyly type B(BDB). ROR2 encodes the receptor tyrosine kinase, which is important for the development of mesomelic long bones. We experienced a boy diagnosed as a Robinow syndrome with fetal face(frontal bossing, hypertelorism, small up-turned nose, triangular mouth with down turned angles, micrognathia), large anterior fontanelle, cranium bifidum, mesomelic shortening, cryptorchidism. We present this case with a brief review of related literature.


Assuntos
Humanos , Masculino , Braquidactilia , Fontanelas Cranianas , Criptorquidismo , Encefalocele , Antebraço , Hipertelorismo , Boca , Nariz , Fenótipo , Proteínas Tirosina Quinases , Crânio
3.
Journal of the Korean Pediatric Society ; : 583-587, 2000.
Artigo em Coreano | WPRIM | ID: wpr-175884

RESUMO

Median cleft face syndrome is diagnosed by two or more of the following anomalies : ocular hypertelorism, cranium bifidum occultum, median cleft nose, median cleft lip and median cleft premaxilla. The most consistent and prominent ocular finding associated with this syndrome is hypertelorism. We experienced a case of median cleft face syndrome which had orbital hypertelorism, cranium bifidum occultum, bifid cleft nose, V-shaped frontal hairline, and polysyndactly. We report this case with a brief review of the associated literature.


Assuntos
Fenda Labial , Encefalocele , Hipertelorismo , Nariz , Órbita
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