Microcephaly, lissencephaly, Hirschsprung disease and tetralogy of Fallot: a new syndrome?
We report an 8-month-old girl with extreme microcephaly, lissencephaly, tetralogy of Fallot and Hirschsprung disease. She has a history of infantile spasms with developmental stagnation. Various diagnoses were considered but none seem to fit her clinical presentation. This combination of findings has not been described in the past and we suggest that this may be a previously undescribed neurodevelopmental syndrome resulting from a global failure of neuronal migration.
Tanteles
George A
GA
Institute of Human Genetics, International Centre for Life, Newcastle upon Tyne, UK.
Kurup
Beena
B
Rauch
Anita
A
Splitt
Miranda P
MP
D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D006627:Hirschsprung Disease / Q000150:complications*; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D054082:Lissencephaly / Q000150:complications*; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000150:complications*; D012097:Repressor Proteins / Q000235:genetics; D013577:Syndrome; D013771:Tetralogy of Fallot / Q000150:complications*; D000074165:Zinc Finger E-box Binding Homeobox 2
D018398:Homeodomain Proteins; D012097:Repressor Proteins; C492363:ZEB2 protein, human; D000074165:Zinc Finger E-box Binding Homeobox 2