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Diagnosis of Fraser syndrome missed out until the age of six months old in a low-resource setting: a case report.

Aimé MbondaFrancky Teddy EndombaUlrick S KanmounyeJan René NkeckJoel Noutakdie Tochie
Published in: BMC pediatrics (2019)
Here we presented a case of Fraser syndrome in a Cameroonian infant whose diagnosis was missed out at birth and fortuitously made at six months of age. In view of the serious and potentially fatal complications of this genetic disorder, we draw clinicians' attention, especially obstetricians, midwives and pediatricians for a high index of clinical suspicion geared at a timely diagnosis and management. Also, for a timely diagnosis, health education on regular antenatal and postnatal follow ups of  the mother-infant couple respectively, cannot be overemphasized.
Keyphrases
  • healthcare
  • public health
  • pregnant women
  • case report
  • preterm infants
  • palliative care
  • mental health
  • working memory
  • gene expression
  • genome wide
  • copy number