Polymalformative syndrome characterized by multiple
skeletal malformation reported in a single female stillbirth.
Ectrodactyly with Spina Bifida and Cardiomyopathy.
Single case report of female
fetus aborted at approximately 34 weeks' gestational age for intrauterine
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 only case reported was stillborn;
however, the anesthetic considerations would be as follows in case of surgery
for a surviving person: retrognathia could make intubation difficult.
Considerations for patients with congenital heart disease include
cardiovascular anatomy and function, 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 Syndrome (cerebellar tonsillar compression of brainstem)
is commonly associated with spina bifida and may cause obstructive
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