PMID: 8592338Nov 1, 1995Paper

Pfeiffer type cardiocranial syndrome: a third case report

Journal of Medical Genetics
L Williamson-Kruse, L G Biesecker

Abstract

Pfeiffer-type cardiocranial syndrome is a rare condition reported previously in three patients, two of whom were sibs. All three patients shared features that included growth and developmental retardation, sagittal synostosis, hypertelorism, low set ears, micrognathia with mandibular ankylosis, congenital heart defects, and genital anomalies. The purposes of this report are to present a fourth patient with features of the Pfeiffer-type cardiocranial syndrome, to expand the clinical phenotype of this condition, and to present evidence that supports the concept that this phenotype represents a distinct nosological entity.

References

Dec 1, 1989·American Journal of Medical Genetics·R F Stratton, D S Parsons
Jan 1, 1988·American Journal of Medical Genetics. Supplement·M M Cohen

❮ Previous
Next ❯

Citations

Oct 2, 1998·Movement Disorders : Official Journal of the Movement Disorder Society·J W LanceM Vidailhet
Jan 26, 2013·The Journal of Craniofacial Surgery·Aina V H GreigJoseph G McCarthy
Feb 7, 1998·American Journal of Medical Genetics·M C DigilioB Dallapiccola
Nov 8, 2017·Craniomaxillofacial Trauma & Reconstruction·Mark S LloydEdward P Buchanan

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.