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1.
Indian J Pediatr ; 81(1): 98-100, 2014 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-23564514

RESUMEN

Campomelic dysplasia is a skeletal dysplasia characterized by flat face, Pierre Robin sequence, shortening and bowing of long bones and club feet. The authors describe a case of "acampomelic" campomelic dysplasia that differs from classical campomelic dysplasia by the absence of bone bowing. This condition is among the most common skeletal dysplasias but is often misdiagnosed in the absence of overt campomelia.


Asunto(s)
Displasia Campomélica/genética , Mutación Missense , Factor de Transcripción SOX9/genética , Humanos , Recién Nacido , Masculino
2.
J Clin Neonatol ; 1(3): 155-6, 2012 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-24027715

RESUMEN

Chikungunya virus (CHIKV) infection manifesting in neonates is very rare. The prevalence of the entity was described only recently. We describe a neonate with chikungunya who presented with severe thrombocytopenia and features of multisytem involvement. Identification of this entity based on clinical and epidemiological background helps in appropriate management and aids in prognostication of the affected neonate.

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