Thanatophoric dysplasia type II with encephalocele and aortic hypoplasia diagnosed in an anatomical specimen

A hitherto unknown combination of congenital anomalies was found in an anatomical specimen of a female neonate. External examination and additional CT and MRI studies showed thanatophoric dysplasia type II with cloverleaf skull and concomitant parietal meningoencephalocele and hypoplasia of the desc...

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Veröffentlicht in:	American journal of medical genetics 2003-04, Vol.118A (1), p.64-67
Hauptverfasser:	Jap‐A‐Joe, Simone M.E.A.A., Oostra, Roelof‐Jan, Maas, Mario, Stoker, Jaap, van der Horst, Chantal M.A.M.
Format:	Artikel
Sprache:	eng
Schlagworte:	anatomical specimen Aorta - abnormalities aortic hypoplasia Biological and medical sciences cloverleaf skull Diseases of the osteoarticular system encephalocele Encephalocele - genetics Encephalocele - physiopathology Female Humans Infant, Newborn Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences museum vrolik thanatophoric dysplasia Thanatophoric Dysplasia - genetics Thanatophoric Dysplasia - physiopathology
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