Neuroblastoma

Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children.

Micrognathia

Developmental hypoplasia of the mandible.


Total: 2

                       


(per page)
PMID (PMCID)
24035971
 FEMALE Infant
Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy.
Passariello A, De Brasi D, Defferrari R, Genesio R, Tufano M, Mazzocco K, Capasso M, Migliorati R, Martinsson T, Siani P, Nitsch L, Tonini GP.
Eur J Med Genet. 2013;56(11):626-34.
Hereby, we describe a 18 months old girl presenting with trigonocephaly and dysmorphic facial features, including hypotelorism, broad depressed nasal bridge, micrognathia, synophrys, epicanthal folds, and with a stage 4 neuroblastoma without MYCN amplification, carrying a germline 11q deletion (11q14.1-q22.3), outside from Jacobsen syndrome and from neuroblastoma 11q critical regions.
24035971
 FEMALE Infant
Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy.
Passariello A, De Brasi D, Defferrari R, Genesio R, Tufano M, Mazzocco K, Capasso M, Migliorati R, Martinsson T, Siani P, Nitsch L, Tonini GP.
Eur J Med Genet. 2013;56(11):626-34.
Hereby, we describe a 18 months old girl presenting with trigonocephaly and dysmorphic facial features, including hypotelorism, broad depressed nasal bridge, micrognathia, synophrys, epicanthal folds, and with a stage 4 neuroblastoma without MYCN amplification, carrying a germline 11q deletion (11q14.1-q22.3), outside from Jacobsen syndrome and from neuroblastoma 11q critical regions.