Encefalopatía  neonatal 

24 -  Junio - 2017

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Box 2 .-  Features on examination suggestive of metabolic aetiology2

• Dysmorphia

  • Large fontanelle

  • Large, prominent forehead

  • Hypertelorism

  • Mid-face hypoplasia

  • Epicanthic folds

  • Flat nasal bridge

  • Long philtrum

  • Unusual nose, upturned/flared alae nasi

  • Ear abnormalities, including low set and external abnormalities to pinna

  • Genital abnormalities

  • Limb shortening

  • Clinodactyly/syndactyly

  • Abnormal feet, such as rocker-bottom

  • Abnormal, inverted nipples

  • Abnormal fat pads

• Head size

  • Microcephaly

  • Macrocephaly

• Liver involvement

  • Hepatomegaly

  • Jaundice

• Cardiac

  • Failure/cardiomyopathy

  • Abnormal ECG

• Eye abnormalities

  • Cataracts

  • Retinitis pigmentosa (noted on ophthalmology review)

  • Cherry red spots

  • Optic atrophy

  • Lens dislocation

• Fetal hydrops

 

 

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