RESUMEN
Eventration of the diaphragm, most often an isolated entity and detected incidentally, has been known to be associated with several genetic syndromes. Authors report their experience of seeing diaphragmatic eventration in association with Poland syndrome and wandering spleen syndrome and briefly discuss the literature.
Asunto(s)
Anomalías Múltiples/diagnóstico , Niño , Eventración Diafragmática/diagnóstico , Femenino , Estudios de Seguimiento , Humanos , Masculino , Síndrome de Poland/diagnóstico , Radiografía Torácica , Factores de Riesgo , Tomografía Computarizada por Rayos XRESUMEN
Fetal Valproate Syndrome results from prenatal exposure to valproic acid. It is characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction. Here we report a 4-year-old boy with typical facial features of Fetal Valproate Syndrome.
Asunto(s)
Anticonvulsivantes/efectos adversos , Preescolar , Femenino , Humanos , Recién Nacido , Enfermedades del Recién Nacido/inducido químicamente , Masculino , Embarazo , Efectos Tardíos de la Exposición Prenatal/inducido químicamente , Síndrome , Ácido Valproico/efectos adversosRESUMEN
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 , SíndromeRESUMEN
Jarcho-Levin syndrome is an eponym that represents a spectrum of short trunk skeletal dysplasias with variable involvement of the vertebrae and ribs. Initially considered to be lethal, it is now accepted as compatible with life in its milder presentations. Here are reported two neonates with the lethal variety of this syndrome. One neonate had associated anomalies like hydrocephalus, hydroureteronephrosis and meningomyelocoele while the other had no additional anomalies. Also is reviewed the literature regarding this less understood disorder focusing on the applied clinical aspects that have stemmed out from the recent molecular research.