title: Pfeiffer type cardiocranial syndrome: a third case report.
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.
authors.affiliation: National Institutes of Health, National Center for Human Genome Research, Laboratory of Genetic Disease Research, Bethesda, MD 20892-4470, USA.
authors.forename: L
authors.initials: L
authors.lastname: Williamson-Kruse
authors.forename: L G
authors.initials: LG
authors.lastname: Biesecker
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D003398:Craniosynostoses / Q000235:genetics*; D003456:Cryptorchidism / Q000235:genetics; D004200:Diseases in Twins; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000235:genetics; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D014429:Twins, Dizygotic