EOGT

Clinical Characteristics

The clinical features of EOGT-related disorder, per organ system, include:

Skeletal
Skull

  • Bony defect of scalp underlying cutis aplasia

Feet

  • Hypoplastic terminal phalanges
  • Absent middle phalanges of toes (rare)
  • Syndactyly (rare)


Skin

  • Scalp aplasia cutis congenita
  • Cutis marmorata (rare)
  • Cafe-au-lait spots on trunk (rare)
  • Hypoplastic/absent toenails

Cardiovascular (rare)

  • Ventricular septal defect  
  • Atrial septal defect
  • Patent ductus arteriosus

Abdomen (rare)

  • Umbilical hernia

Neurologic (rare)

  • Periventricular calcifications
  • Thick cortex
  • Posteriro pachygyria
  • Temporal or occipital lobe infarcts