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Pfeiffer type cardiocranial syndrome: a third case report

L Williamson-Kruse¹, L G Biesecker

¹National Institutes of Health, National Center for Human Genome Research, Laboratory of Genetic Disease Research, Bethesda, MD 20892-4470, USA.

Journal of Medical Genetics

|November 1, 1995

Summary

Pfeiffer-type cardiocranial syndrome, a rare genetic disorder, is characterized by specific craniofacial and cardiac anomalies. This report details a fourth patient, expanding the known clinical features and supporting its classification as a distinct condition.

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Area of Science:

Genetics
Pediatrics
Medical Genetics

Background:

Pfeiffer-type cardiocranial syndrome is a rare disorder.
Previously documented in three patients, often familial.
Characterized by growth retardation, craniofacial abnormalities, heart defects, and genital anomalies.