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Polymalformative syndrome characterized by multiple skeletal malformation reported in a single female stillbirth.

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Ectrodactyly with Spina Bifida and Cardiomyopathy.

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

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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.

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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 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]

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