» Articles » PMID: 2002485

The Ohdo Blepharophimosis Syndrome: a Third Case

Overview
Journal J Med Genet
Specialty Genetics
Date 1991 Feb 1
PMID 2002485
Citations 7
Authors
Affiliations
Soon will be listed here.
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.

Citing Articles

De novo KAT6B mutation causes Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome in an Iranian boy: a case report.

Davarnia B, Panahi M, Rahimi B, Anari H, Farajollahi R, Abbaspour Rodbaneh E J Med Case Rep. 2024; 18(1):4.

PMID: 38178270 PMC: 10768154. DOI: 10.1186/s13256-023-04237-w.


Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.

Yabumoto M, Kianmahd J, Singh M, Palafox M, Wei A, Elliott K Mol Genet Genomic Med. 2021; 9(10):e1809.

PMID: 34519438 PMC: 8580094. DOI: 10.1002/mgg3.1809.


Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.

Zhang L, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu D Genet Med. 2020; 22(8):1338-1347.

PMID: 32424177 PMC: 7737399. DOI: 10.1038/s41436-020-0811-8.


An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature.

Ounap K, Pajusalu S, Zilina O, Reimand T, Zordania R Clin Case Rep. 2016; 4(8):824-30.

PMID: 27525095 PMC: 4974439. DOI: 10.1002/ccr3.632.


The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.

Campeau P, Lu J, Dawson B, Fokkema I, Robertson S, Gibbs R Hum Mutat. 2012; 33(11):1520-5.

PMID: 22715153 PMC: 3696352. DOI: 10.1002/humu.22141.


References
1.
Tsukahara M, Azuno Y, Kajii T . Type A1 brachydactyly, dwarfism, ptosis, mixed partial hearing loss, microcephaly, and mental retardation. Am J Med Genet. 1989; 33(1):7-9. DOI: 10.1002/ajmg.1320330103. View

2.
Oley C, Baraitser M . Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome). J Med Genet. 1988; 25(1):47-51. PMC: 1015423. DOI: 10.1136/jmg.25.1.47. View

3.
Gossage D, Perrin J, Butler M . A 26-month-old child with Marden-Walker syndrome and pyloric stenosis. Am J Med Genet. 1987; 26(4):915-9. PMC: 5493387. DOI: 10.1002/ajmg.1320260420. View

4.
Ohdo S, Madokoro H, Sonoda T, Hayakawa K . Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth. J Med Genet. 1986; 23(3):242-4. PMC: 1049635. DOI: 10.1136/jmg.23.3.242. View

5.
Winter R . Dubowitz syndrome. J Med Genet. 1986; 23(1):11-3. PMC: 1049533. DOI: 10.1136/jmg.23.1.11. View