PMID- 22497499
OWN - NLM
STAT- MEDLINE
DCOM- 20130326
LR  - 20121018
IS  - 1744-5094 (Electronic)
IS  - 1381-6810 (Linking)
VI  - 33
IP  - 4
DP  - 2012 Dec
TI  - Chromosome 6p25 deletion syndrome: report of a case with optic disc coloboma and 
      review of published ophthalmic findings.
PG  - 240-8
LID - 10.3109/13816810.2012.675396 [doi]
AB  - PURPOSE: The 6p25 deletion syndrome is a rare disorder characterized by 
      Dandy-Walker malformation, congenital heart defects, developmental delay, 
      dysmorphic facial features, and malformations of the anterior segment of the eye 
      with a risk for glaucoma. Here we report a child harboring a cryptic de novo 6p25 
      deletion, bilateral optic disc coloboma and characteristic anterior segment 
      anomalies. We review reported ophthalmic findings in patients with this syndrome. 
      MATERIALS AND METHODS: Retrospective case review of a 4-day-old male with 
      Dandy-Walker malformation and cardiac defects who was referred with a suspected 
      diagnosis of iris coloboma. RESULTS: The ophthalmic examination showed bilateral 
      corectopia associated with posterior embryotoxon. Fundus examination revealed 
      bilateral optic disc excavation, which was diagnosed as colobomatous because of 
      its configuration and stability over time. Because of the association of 
      posterior embryotoxon with Dandy-Walker malformation, a terminal 6p deletion 
      syndrome was clinically suspected. Array comparative genomic hybridization (CGH) 
      and fluorescence in situ hybridization (FISH) studies revealed a 3.2 Mb deletion 
      at 6p25.2p25.3 including the FOXC1 gene. Neither unaffected parent carried this 
      deletion. CONCLUSIONS: Optic disc colobomas may be found in patients carrying a 
      6p25 deletion. This has the potential to confound assessment of affected children 
      for glaucoma and intracranial hypertension.
FAU - Beby, Francis
AU  - Beby F
AD  - Department of Paediatric Ophthalmology, Femme Mere-Enfant Hospital, Bron, France. 
      beby.francis@neuf.fr
FAU - Des Portes, Vincent
AU  - Des Portes V
FAU - Till, Marianne
AU  - Till M
FAU - Mottolese, Carmine
AU  - Mottolese C
FAU - Denis, Philippe
AU  - Denis P
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
DEP - 20120412
PL  - England
TA  - Ophthalmic Genet
JT  - Ophthalmic genetics
JID - 9436057
SB  - IM
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 6/*genetics
MH  - Coloboma/*genetics
MH  - Dandy-Walker Syndrome/genetics
MH  - Gestational Age
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Intraocular Pressure
MH  - Male
MH  - Nucleic Acid Hybridization
MH  - Optic Disk/*abnormalities
MH  - Retrospective Studies
EDAT- 2012/04/14 06:00
MHDA- 2013/03/27 06:00
CRDT- 2012/04/14 06:00
PHST- 2012/04/14 06:00 [entrez]
PHST- 2012/04/14 06:00 [pubmed]
PHST- 2013/03/27 06:00 [medline]
AID - 10.3109/13816810.2012.675396 [doi]
PST - ppublish
SO  - Ophthalmic Genet. 2012 Dec;33(4):240-8. doi: 10.3109/13816810.2012.675396. Epub 
      2012 Apr 12.