Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Three new European cases of urofacial (Ochoa) syndrome.

Literature DB >> 11446407

Three new European cases of urofacial (Ochoa) syndrome.

S Garcia-Minaur¹, F Oliver, J M Yanez, J R Soriano, F Quinn, W Reardon.

Abstract

We report on three European cases of urofacial (Ochoa) syndrome. This entity was originally described in Colombian patients and very few cases have been reported from other countries. It is likely that they may be missed because of variability of the urinary problems and failure to recognize the characteristic facial grimacing. Establishing an early diagnosis has important consequences for the management and prognosis of urinary problems in these patients.

Entities: Disease Mutation Species

Mesh：

Year: 2001 PMID： 11446407 DOI： 10.1097/00019605-200107000-00002

Source DB: PubMed Journal: Clin Dysmorphol ISSN： 0962-8827 Impact factor: 0.816

Keyword Cloud
Cited

8 in total

1. Ochoa syndrome: a spectrum of urofacial syndrome.

Authors: Ozgu Aydogdu; Berk Burgu; Fuat Demirel; Tarkan Soygur; Zeynep Birsin Ozcakar; Fatos Yalcinkaya; Serdar Tekgul
Journal: Eur J Pediatr Date: 2009-08-11 Impact factor: 3.183

2. Mutations in HPSE2 cause urofacial syndrome.

Authors: Sarah B Daly; Jill E Urquhart; Emma Hilton; Edward A McKenzie; Richard A Kammerer; Malcolm Lewis; Bronwyn Kerr; Helen Stuart; Dian Donnai; David A Long; Berk Burgu; Ozgu Aydogdu; Murat Derbent; Sixto Garcia-Minaur; Willie Reardon; Blanca Gener; Stavit Shalev; Rupert Smith; Adrian S Woolf; Graeme C Black; William G Newman
Journal: Am J Hum Genet Date: 2010-06-11 Impact factor: 11.025

3. Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.

Authors: Junfeng Pang; Shu Zhang; Ping Yang; Bobbilynn Hawkins-Lee; Jixin Zhong; Yushan Zhang; Bernardo Ochoa; Jose A G Agundez; Marie-Antoinette Voelckel; Richard B Fisher; Weikuan Gu; Wen-Cheng Xiong; Lin Mei; Jin-Xiong She; Cong-Yi Wang
Journal: Am J Hum Genet Date: 2010-06-11 Impact factor: 11.025

Three new European cases of urofacial (Ochoa) syndrome.

1. Ochoa syndrome: a spectrum of urofacial syndrome.

2. Mutations in HPSE2 cause urofacial syndrome.

3. Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.

Review 4. Clinical and genetic characteristics for the Urofacial Syndrome (UFS).

5. Nocturnal lagophthalmos in children with urofacial syndrome (Ochoa): a novel sign.

Review 6. Can a congenital dysfunctional bladder be diagnosed from a smile? The Ochoa syndrome updated.

7. Urofacial syndrome: A subset of neurogenic bladder dysfunction syndromes?

8. Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus.