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1.
Indian J Pediatr ; 2006 Apr; 73(4): 353-5
Artículo en Inglés | IMSEAR | ID: sea-82243

RESUMEN

In this communication is reported a neonate with Yunis Varon syndrome, a rare autosomal recessive disorder, born to a consanguineously married couple who had microcephaly, wide cranial sutures, prominent eyes, hypertelorism, dysplastic ears, sparse hairs, cupid bow like upper lip with median pseudocleft and labio-gingival retraction. Bilateral hypoplasia of thumbs, absent great toes, short phalanges were other features. Additional features in this case included median pseudocleft unreported earlier and C.T. findings of underdeveloped gyri, ischemic changes in temperoparietal region and bilateral lacunar infarcts in middle cerebral artery territory.


Asunto(s)
Anomalías Múltiples/diagnóstico , Anomalías Craneofaciales/diagnóstico por imagen , Femenino , Dedos/anomalías , Deformidades Congénitas del Pie/diagnóstico por imagen , Humanos , Recién Nacido , Síndrome
2.
Indian J Pediatr ; 2005 Dec; 72(12): 1053-4
Artículo en Inglés | IMSEAR | ID: sea-81555

RESUMEN

Larsen syndrome is a condition characterized by generalized defect in collagen formation. Autosomal dominant, autosomal recessive and even sporadic fresh mutations have been reported. Very few cases of lethal variety of Larsen syndrome have been reported in the world. The authors emphasize the importance of recognition of this condition which is often misdiagnosed.


Asunto(s)
Anomalías Múltiples/diagnóstico , Enfermedades del Colágeno/congénito , Luxaciones Articulares/congénito , Cara/anomalías , Resultado Fatal , Humanos , Recién Nacido , Deformidades Congénitas de las Extremidades/diagnóstico , Masculino , Síndrome
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