Nasal encephalocele in a child with mosaic trisomy 14

Clinical Dysmorphology

Volumn 18, Issue 3, 2009, Pages 164-165

  McGaughran, Julie ^a   Stevens, Rebecca ^b   Blond, Adam ^b   Perry, Christopher ^b  

^a ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ANTERIOR CRANIAL FOSSA; ARTICLE; BRAIN; CARTILAGE; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; COMPUTER ASSISTED TOMOGRAPHY; CRYPTORCHISM; CYST; ENCEPHALOCELE; ENCEPHALOMENINGOCELE; FACE ASYMMETRY; FAILURE TO THRIVE; FEEDING DISORDER; GLIOMA; HUMAN; HUMAN TISSUE; LARYNGOMALACIA; LARYNGOPLASTY; MALE; MASTICATION; MOSAICISM; NASAL BONE; NOSE MALFORMATION; NOSE SEPTUM; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; PULMONARY VALVE STENOSIS; SKIN BIOPSY; SKULL BASE; STRIDOR; TRISOMY; TRISOMY 14;

CHROMOSOMES, HUMAN, PAIR 14; ENCEPHALOCELE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; MOSAICISM; NOSE; POLYMERASE CHAIN REACTION; TRISOMY;

EID: 67849093828     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e32832921b9     Document Type: Article

References (5)

1. Fujimoto A, Allanson J, Crowe CA, Lipson MH, Johnson VP (1992). Natural history of mosaic trisomy 14 syndrome. Am J Med Genet 44:189-196.
2. Healey S, Powell F, Battersby M, Chenevix-Trench G, McGill J (1994). Distinct phenotype in maternal uniparental disomy of chromosome 14. Am J Med Genet 51:147-149.
3. Kaplan LC, Wane A, Crowell S, Latt SA (1986). Trisomy 14 mosaicism in a liveborn male: clinical report and review of the literature. Am J Med Genet 23:925-930.
4. Lynch MF, Fernandes CJ, Shaffer LG, Potocki L (2004). Trisomy 14 mosaicism: a case report and review of the literature. J Perinatol 24:121-123.
5. Sepulveda W, Monckberg MJ, Be C (1998). Twin pregnancy discordant for trisomy 14 mosaicism: prenatal sonographic findings. Prenat Diagn 18:481-484.