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 descending aorta. The possibilities of causal correlations are discussed.
Jap-A-Joe
Simone M E A A
SM
Department of Anatomy and Embryology, Academic Medical Center, University of Amsterdam, The Netherlands.
Oostra
Roelof-Jan
RJ
Maas
Mario
M
Stoker
Jaap
J
van der Horst
Chantal M A M
CM
D001011:Aorta / Q000002:abnormalities*; D004677:Encephalocele / Q000235:genetics / Q000503:physiopathology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D013796:Thanatophoric Dysplasia / Q000235:genetics / Q000503:physiopathology*