Skip to Main Content

We have a new app!

Take the Access library with you wherever you go—easy access to books, videos, images, podcasts, personalized features, and more.

Download the Access App here: iOS and Android

At a glance

Polymalformative syndrome characterized by multiple skeletal malformations that was reported in a single female stillbirth.


Ectrodactyly Spina Bifida Cardiomyopathy Syndrome.


Single case report of female fetus aborted at approximately 34 weeks’ gestational age for intrauterine death.

Genetic inheritance

Not determined.

Clinical aspects

Craniofacial abnormalities were mild retrognathia and high-arched palate. Ear structure was simplified. There was a membranous-type ventricular septal defect and single umbilical artery. Spina bifida with myelomeningocele was present, as was ectrodactyly (absent right second and third digits and absent left second, third, and fourth digits) of the feet.

Anesthetic considerations

The only case reported was stillborn. However, one may speculate based on the clinical presentation of the case reported above that the anesthetic considerations would be mostly focused on the airway management since severe retrognathia was present. Other considerations would include a thorough investigation for the presence of congenital heart disease, current medications, endocarditis prophylaxis, and prevention of air embolus. Patients with uncorrected myelomeningocele must be handled carefully to prevent damage to or rupture of the sac. Latex precautions or allergy are a concern in these patients.☞Arnold-Chiari Malformation (cerebellar tonsillar compression of brainstem) is commonly associated with spina bifida and may cause obstructive hydrocephalus.


Kasznica  J, Carlson  JA, Coppedge  D: Ectrodactyly, retrognathism, abnormal ears, highly arched palate, spina bifida, congenital heart defect, single umbilical artery. Am J Med Genet 40:414, 1991.  [PubMed: 1746602]

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.