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

American Journal of Medical Genetics

Volumn 118 A, Issue 1, 2003, Pages 64-67

  Jap A Joe, Simone M E A A ^a   Oostra, Roelof Jan ^a   Maas, Mario ^a   Stoker, Jaap ^a   Van der Horst, Chantal M A M ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Anatomical specimen; Aortic hypoplasia; Cloverleaf skull; Encephalocele; Museum vrolik; Thanatophoric dysplasia

Indexed keywords

AORTA ANOMALY; ARTICLE; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DESCENDING AORTA; DISEASE COURSE; ENCEPHALOCELE; ENCEPHALOMENINGOCELE; FEMALE; HUMAN; HYPOPLASIA; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SKULL MALFORMATION; THANATOPHORIC DWARFISM;

EID: 0041319372     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10262     Document Type: Article

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