RESUMO
Nager acrofacial dysostosis comprises defects of cranio facial region and limbs (mostly upper) with variable associated anomalies. The cranio- facial complex is indistinguishable from the mandibulo facial dysostosis (Treacher Collins syndrome). About 80 cases have been described in the literature. We describe the case of a one-day-old male neonate who presented with the typical features of the disease complex. Although normal life span has been reported, our patient died on the second day due to cardio respiratory failure. We report this case because of its rarity and an unusual associated feature of bilaterally symmetrical upper and lower eyelid colobomas.
Assuntos
Anormalidades Múltiplas , Coloboma/etiologia , Disostose Craniofacial/complicações , Evolução Fatal , Humanos , Recém-Nascido , Masculino , Síndrome do Desconforto Respiratório do Recém-Nascido/complicaçõesRESUMO
We report a new association of coloboma of the iris and optic disc and eczema of the skin in child who developed stroke due to Moyamoya syndrome.
Assuntos
Criança , Coloboma/etiologia , Dermatite Atópica/etiologia , Feminino , Humanos , Doença de Moyamoya/complicações , Acidente Vascular Cerebral/etiologiaRESUMO
Os autores apresentam uma revisäo na literatura de Paracoccidioidomicose com comprometimento ocular