Encefalopatía  neonatal 

24 -  Junio - 2017


 

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