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Article | IMSEAR | ID: sea-185167

RÉSUMÉ

Late onset HDN can present as bleeding from any site of the body but more commonly from intracranial vessels. It is diagnosed if bleeding occurs after 7th day of life with normal platelet count, prolonged prothrombin time (PT) and activated partial thromboplastin time (aPTT), associated with stopping of bleeding and PT/PTTreturning to normal after giving vitamin K. Among the types of intracranial bleeding in late hemorrhagic disease of newborn, intracerebral parenchymal bleeding is least common.

3.
Indian J Hum Genet ; 2011 Jan; 17(1): 26-28
Article de Anglais | IMSEAR | ID: sea-138928

RÉSUMÉ

Ectrodactyly, ectodermal dysplasia and cleft palate syndrome is a rare autosomal dominant multiple congenital anomaly syndrome with variable expressivity and reduced penetration. The cardinal features are cleft palate/lip, lobster hand deformity, sparse hypopigmented hair, dry scaly skin, and lacrimal and urogenital anomalies. A neonate presented to us with typical features, his mother and other two siblings were also affected.


Sujet(s)
Malformations multiples/étiologie , Adulte , Enfant , Bec-de-lièvre/épidémiologie , Bec-de-lièvre/génétique , Fente palatine/épidémiologie , Fente palatine/génétique , Analyse de regroupements , Dysplasie ectodermique/épidémiologie , /génétique , Anomalies morphologiques congénitales du pied/épidémiologie , Anomalies morphologiques congénitales du pied/génétique , Anomalies morphologiques congénitales de la main/épidémiologie , Anomalies morphologiques congénitales de la main/génétique , Doigts/malformations , Couleur des cheveux , Humains , Ichtyose/étiologie , Nouveau-né , Appareil lacrymal/malformations , Troubles de la pigmentation/étiologie , Fratrie , Syndrome , Malformations urogénitales/étiologie
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