The Ohdo blepharophimosis syndrome: a third case
- PMID: 2002485
- PMCID: PMC1016784
- DOI: 10.1136/jmg.28.2.131
The Ohdo blepharophimosis syndrome: a third case
Abstract
A patient with a syndrome consisting of blepharophimosis, simple ears, hypoplastic teeth, developmental delay, and hypotonia is described. Previous case reports are reviewed and a differential diagnosis is described. Many of the features in the subject are similar to those described in two previous reports and they constitute a distinct syndrome.
Similar articles
-
Blepharophimosis, telecanthus, microstomia, and unusual ear anomaly (Simosa syndrome) in an infant.Am J Med Genet. 1994 Jul 1;51(3):222-3. doi: 10.1002/ajmg.1320510309. Am J Med Genet. 1994. PMID: 8074148
-
Congenital ptosis and blepharophimosis in a mentally retarded girl: a new case of Ohdo syndrome?Clin Dysmorphol. 1998 Jan;7(1):61-3. Clin Dysmorphol. 1998. PMID: 9546834 Review.
-
A boy with mental retardation, blepharophimosis and hypothyroidism: a diagnostic dilemma between Young-Simpson and Ohdo syndrome.Clin Dysmorphol. 2000 Jul;9(3):199-204. doi: 10.1097/00019605-200009030-00009. Clin Dysmorphol. 2000. PMID: 10955481
-
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.Am J Med Genet A. 2006 Jun 15;140(12):1285-96. doi: 10.1002/ajmg.a.31270. Am J Med Genet A. 2006. PMID: 16700052
-
Oculoauriculofrontonasal syndrome: report of another case and review of differential diagnosis.Clin Dysmorphol. 1995 Oct;4(4):338-46. doi: 10.1097/00019605-199510000-00010. Clin Dysmorphol. 1995. PMID: 8574425 Review.
Cited by
-
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.Genet Med. 2020 Aug;22(8):1338-1347. doi: 10.1038/s41436-020-0811-8. Epub 2020 May 19. Genet Med. 2020. PMID: 32424177 Free PMC article. Review.
-
De novo KAT6B mutation causes Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome in an Iranian boy: a case report.J Med Case Rep. 2024 Jan 5;18(1):4. doi: 10.1186/s13256-023-04237-w. J Med Case Rep. 2024. PMID: 38178270 Free PMC article.
-
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.Hum Mutat. 2012 Nov;33(11):1520-5. doi: 10.1002/humu.22141. Epub 2012 Jul 12. Hum Mutat. 2012. PMID: 22715153 Free PMC article. Review.
-
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.Mol Genet Genomic Med. 2021 Oct;9(10):e1809. doi: 10.1002/mgg3.1809. Epub 2021 Sep 14. Mol Genet Genomic Med. 2021. PMID: 34519438 Free PMC article.
-
Blepharophimosis-mental retardation syndrome and terminal deletion of chromosome 3p.J Med Genet. 1995 Mar;32(3):245-6. doi: 10.1136/jmg.32.3.245-a. J Med Genet. 1995. PMID: 7783183 Free PMC article. No abstract available.
References
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Molecular Biology Databases