Malformation of the fetal brain in thanatophoric dysplasia: US and MRI findings

Pediatric Radiology

Volumn 40, Issue SUPPL.1, 2010, Pages

  Fink, A Michelle ^a,b,c   Hingston, Tania ^b   Sampson, Amanda ^b   Ng, Jessica ^a,b   Palma Dias, Ricardo ^b,c  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b ROYAL WOMEN'S HOSPITAL   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

Brain malformation; Fetal MRI; Fetal US; Postmortem; Thanatophoric dysplasia

Indexed keywords

ADULT; ARTICLE; AUTOPSY; BONE DYSPLASIA; BRACHYDACTYLY; BRAIN MALFORMATION; CASE REPORT; FEMALE; FEMUR; FETUS ECHOGRAPHY; HIPPOCAMPUS; HUMAN; HUMERUS; LONG BONE; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCIPITAL LOBE; PRIORITY JOURNAL; TEMPORAL LOBE; THANATOPHORIC DWARFISM; BRAIN; CONGENITAL MALFORMATION; ECHOENCEPHALOGRAPHY; PATHOLOGY;

BRAIN; ECHOENCEPHALOGRAPHY; HUMANS; MAGNETIC RESONANCE IMAGING; THANATOPHORIC DYSPLASIA; ULTRASONOGRAPHY, PRENATAL;

EID: 79955653082     PISSN: 03010449     EISSN: 14321998     Source Type: Journal    
DOI: 10.1007/s00247-010-1697-4     Document Type: Article

References (6)

1. Orioli IM, Castilla EE, Barbosa-Neto JG (1986) The birth prevalence rates for the skeletal dysplasias. J Med Genet 23:328-332
2. Waller DK, Correa A, Vo TM et al (2008) The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US. Am J Med Genet A 146A:2385-2389
3. Hevner RF (2005) The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis. Acta Neuropathol 11:208-221
4. Knisely AS, Ambler MW (1988) Temporal-lobe abnormalities in thanatophoric dysplasia. Pediatr Neurosci 14:169-176
5. Yamaguchi K, Honma K (2001) Autopsy case of thanatophoric dysplasia: observations on the serial sections of the brain. Neuropathology 21:222-228
6. Miller E, Blaser S, Shannon P et al (2009) Brain and bone abnormalities of thanatophoric dwarfism. AJR 92:48-51