complex craniofacial anomalies, bilateral nasal proboscides, palatal pituitary, upper limbs reduction, and amnion rupture sequence
Synopsis
lateral and midline cleft upper lip
ectopic palatal pituitary
natal teeth
bilateral nasal proboscides
absent nose
microphthalmia
conjunctival-lined cyst
right ocular dysgenesis
bilateral retinal dysplasia
platybasia
skull asymmetry
hydrocephalus secondary to aqueductal atresia
brain hemispheric asymmetry
parietal-occipital cortical flap
agenesis of posterior corpus callosum
absence of the olfactory nerves
left anterior cerebral artery
leptomeningeal and intraventricular heterotopias
right radial longitudinal terminal meromelia
constriction rings of fingers
partial syndactyly of the third and fourth left fingers
dorsiflexed great toes
pes equinovarus bilaterally
multiple skin tags
sacral appendage
See also
disorganization phenotype
abnormality of blastogenesis
early damage to organizing tissues of the frontonasal region and limbs
vascular disruption
early amnion rupture sequence
extraamniotic pregnancy
amniotic bands
limb reduction defects with Streeter bands
References
Stanek J, de Courten-Myers G, Spaulding AG, Strub W, Hopkin RJ.Case of complex craniofacial anomalies, bilateral nasal proboscides, palatal pituitary, upper limbs reduction, and amnion rupture sequence: disorganization phenotype? Pediatr Dev Pathol. 2001 Mar-Apr;4(2):192-202. PMID: 11178637