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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Beschreibung
Zusammenfassung:	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. © 2003 Wiley‐Liss, Inc.
ISSN:	1552-4825 0148-7299 1552-4833 1096-8628
DOI:	10.1002/ajmg.a.10262