Anophthalmia-Waardenburg syndrome with expanding phenotype: Does neural crest play a role?

Journal of Child Neurology

Volumn 22, Issue 11, 2007, Pages 1252-1255

  Galasso, Cinzia ^a   Bombardieri, Roberta ^a   Cerminara, Caterina ^a   Stranci, Giuseppe ^b   Curatolo, Paolo ^a  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b UNIVERSITY OF PALERMO   (Italy)

Author keywords

Anophthalmia Waardenburg syndrome; Epilepsy; Neural crest

Indexed keywords

VALPROIC ACID;

ANOPHTHALMIA; APGAR SCORE; ARTICLE; BRAIN MALFORMATION; CASE REPORT; CHILD HEALTH CARE; CHROMOSOME ABERRATION; CLEFT PALATE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DISEASE CLASSIFICATION; ELECTROENCEPHALOGRAM; EPILEPSY; EVOKED BRAIN STEM RESPONSE; FAMILY HISTORY; HEADACHE; HUMAN; IMMINENT ABORTION; LIMB MALFORMATION; MALE; MENTAL DEFICIENCY; NAUSEA AND VOMITING; NEURAL CREST; NUCLEAR MAGNETIC RESONANCE IMAGING; PERCEPTION DEAFNESS; PHENOTYPE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN DEFECT; SYNDACTYLY; WAARDENBURG SYNDROME;

ANOPHTHALMOS; CHILD; ELECTROENCEPHALOGRAPHY; HUMANS; MALE; NEURAL CREST; PHENOTYPE; WAARDENBURG'S SYNDROME;

EID: 36248955412     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073807307100     Document Type: Article

References (14)

1. Waardenburg PJ Genetics and ophthalmology. 1st ed. Oxford: Blackwell Scientific Publications; 1961.
2. Richieri-Costa A., Gollop TR, Otto PG Autosomally recessive anophthalmia with multiple congenital abnormalities-type Waardenburg. Am J Med Genet. 1983;14:607-615.
3. Pallotta R., Dallapiccola B. A syndrome with true anophthalmia, hand-foot defects and mental retardation. Ophthalmic Paediatr Genet. 1984;4:19-23.
4. Tekin M., Tutar E., Arsan S., Atay G., Bodurtha J. Ophthalmo-acromelic syndrome: Report and review. Am J Med Genet. 2000;17;90:150-154.
5. Cogulu O., Ozkinay F., Gunduz C., et al. Waardenburg anophthalmia syndrome: Report and review. Am J Med Genet. 2000;90:173-174.
6. Caksen H., Odabas D., Oner AF, Abuhandan M., Calebi V. Ophthalmo-acromelic syndrome in a Turkish infant: Case report. East Afr Med J. 2002;79:339-340.
7. Kara F., Yesildaglar N., Tuncer RA, et al. A case report of prenatally diagnosed ophthalmo-acromelic syndrome type Waardenburg. Prenat Diagn. 2002;22:395-397.
8. Opdecamp K., Vanvooren P., Riviere H., et al. The rat microphthalmia-associated transcription factor (Mitf) maps at 4q34-q41 and is mutated in the mib rats. Mamm Genome. 1998;9:617-621.
9. Graw J., Pretsch W., Loster J. Mutation in intron 6 of the hamster Mitf gene leads to skipping of the subsequent exon and creates a novel animal model for the human Waardenburg syndrome type II. Genetics. 2003;164:1035-1041.
10. Sanchez-Martin M., Rodriguez-Garcia A., Perez-Losada J., et al. SLUG (SNAIL2) deletions in patients with Waardenburg disease. Hum Mol Genet. 2002; 11: 3231-3236.
11. Gupta PC, Peralta D., Parker M., Crowe C., Clark B., Traboulsi EI Bilateral microphthalmia with cyst, facial clefts, and limb anomalies: A new syndrome with features of Waardenburg syndrome, cerebro-ocular-nasal syndrome and craniotelencephalic dysplasia. Am J Med Genet. 2003;117A:72-75.
12. Wissers W., Van Sleensel M, Steijlen P., et al. Klipper-Trenaunay syndrome and Sturge Weber syndrome: Variations on a theme? Eur J Dermatol. 2003;13:223.
13. Sarnat HB, Sarnat LF Embryology of the neural crest: Its inductive role in the neurocutaneous syndromes. J Child Neurol. 2005;20:637-643.
14. Sarnat HB, Sarnat LF Embryological basis of the neurocutaneous syndromes. In: Curatolo P and Riva D, eds. Neurocutaneous Syndromes in Children. Montrouge, France: John Libbey Eurotext; 2006: 1-16.