Intrafamilial variability of Pfeiffer-type cardiocranial syndrome

We report on the occurrence of Pfeiffer‐type cardiocranial syndrome in a brother and sister born to unaffected parents. The cardinal manifestations of the syndrome are congenital heart defect, sagittal craniosynostosis, genital anomalies, and mental and growth retardation. The craniosynostosis was p...

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Veröffentlicht in:	American journal of medical genetics 1997-12, Vol.73 (4), p.480-483
Hauptverfasser:	Digilio, Maria Cristina, Marino, Bruno, Borzaga, Umberto, Giannotti, Aldo, Dallapiccola, Bruno
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult autosomal-recessive inheritance Biological and medical sciences Complex syndromes congenital heart defect Craniosynostoses - genetics Developmental Disabilities - genetics Face - abnormalities Female Hand Deformities, Congenital Heart Defects, Congenital - genetics Humans Hypertelorism - genetics Infant Infant, Newborn Male Medical genetics Medical sciences Penis - abnormalities Pregnancy sagittal craniosynostosis Syndrome tetralogy of Fallot Toes - abnormalities
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