Pfeiffer-type cardiocranial syndrome: a patient with features of this condition and with an unbalanced subtelomeric rearrangement involving chromosomes 1p and 17q

Clinical Dysmorphology
Emma McCannSarah Smith

Abstract

Pfeiffer-type cardiocranial syndrome (MIM 218450) was first delineated in 1987; several further patients have been reported confirming this as a distinct nosological entity. The aetiology of this condition remains unknown although an autosomal recessive pattern of inheritance has been suggested following the description of sib pairs. A patient is described with features of this condition including sagittal suture synostosis, growth retardation, learning difficulties, hypertelorism, low-set ears, micrognathia, congenital heart defects and genital anomalies. Telomere studies on blood and skin samples identified a de novo unbalanced rearrangement resulting in partial monosomy for 1p36.1 to pter and partial trisomy for 17q25.1 to qter. This case provides the first insight into the possible aetiology of this condition.

References

Dec 1, 1989·American Journal of Medical Genetics·R F Stratton, D S Parsons
Nov 1, 1995·Journal of Medical Genetics·L Williamson-Kruse, L G Biesecker
Feb 7, 1998·American Journal of Medical Genetics·M C DigilioB Dallapiccola

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Citations

Aug 9, 2012·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Nneamaka B AgochukwuMaximilian Muenke
Nov 27, 2014·American Journal of Medical Genetics. Part a·Felipe MarquesRobert Pogue
Jun 14, 2015·Orphanet Journal of Rare Diseases·F J ProbstS R Lalani

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