American journal of medical genetics, 2003-04, Vol.118A (1), p.64-67
2003
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Details
- Autor(en) / Beteiligte
- Titel
- Thanatophoric dysplasia type II with encephalocele and aortic hypoplasia diagnosed in an anatomical specimen
- Ist Teil von
- American journal of medical genetics, 2003-04, Vol.118A (1), p.64-67
- Ort / Verlag
- New York: Wiley Subscription Services, Inc., A Wiley Company
- Erscheinungsjahr
- 2003
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- 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.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1552-4825, 0148-7299eISSN: 1552-4833, 1096-8628DOI: 10.1002/ajmg.a.10262Titel-ID: cdi_proquest_miscellaneous_73047363
- Format
- –
- 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