Growth Height:
short stature (2/4 patients)
Head And Neck Face:
reticulolinear skin defects, congenital (4/4 patients)
high forehead (1/4 patients)
long philtrum (1/4 patients)
asymmetric face (1/4 patients)
small chin (2/4 patients)
Head And Neck Ears:
posteriorly rotated ears (1/4 patients)
Head And Neck Nose:
short nose (1/4 patients)
Cardiovascular Vascular:
pulmonary hypertension (1/4 patients)
Chest Breasts:
widely spaced nipples (1/4 patients)
Genitourinary Kidneys:
renal agenesis, left-sided (1/4 patients)
Skeletal Hands:
clinodactyly of fifth fingers (1/4 patients)
Skin Nails Hair Skin:
reticulolinear skin defects over face and neck (4/4 patients)
erythroderma, patchy, on cheeks and chin (1/4 patients)
Skin Nails Hair Skin Electron Microscopy:
cytoplasmic bodies, 80 nm to 100 nm, with electron-dense membrane, within keratinocytes of perilesional skin (1/4 patients)
Neurologic Behavioral Psychiatric Manifestations:
attention-deficit/hyperactivity disorder (1/4 patients)
Head And Neck Head:
microcephaly (3/4 patients)
Head And Neck Neck:
reticulolinear skin defects, congenital (4/4 patients)
Head And Neck Eyes:
hypertelorism (2/4 patients)
limited eyelid closure (1/4 patients)
arched eyebrows (1/4 patients)
long upslanting palpebral fissures (1/4 patients)
myopia (1/4 patients)
poor vision (1/4 patients)
pale optic discs (1/4 patients)
altered visual evoked potentials (1/4 patients)
more
Cardiovascular Heart:
atrial septal defect (1/4 patients)
ventricular hypertrophy (1/4 patients)
tetralogy of fallot (1/4 patients)
Chest External Features:
asymmetric thorax (1/4 patients)
Chest Diaphragm:
diaphragmatic hernia, right-sided (1/4 patients)
Genitourinary Ureters:
ureteral duplication, right-sided (1/4 patients)
Skeletal Feet:
sandal gap (1/4 patients)
Skin Nails Hair Skin Histology:
mild perivascular lymphocyte infiltrate in perilesional skin (1/4 patients)
regeneration of dermis in perilesional skin (1/4 patients)
no intraepidermal or subepidermal cleavage in perilesional skin (1/4 patients)
uninvolved skin unremarkable (1/4 patients)
Neurologic Central Nervous System:
psychomotor retardation (2/4 patients)
thin corpus callosum (1/4 patients)
delayed myelination (1/4 patients)