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complex craniofacial anomalies, bilateral nasal proboscides, palatal pituitary, upper limbs reduction, and amnion rupture sequence

Tuesday 5 February 2008

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