Literature DB >> 25535458

Variability of expression of oral-facial-digital syndrome type I in 15 Saudi girls: Why is there a high rate of median cleft lip in the phenotype?

Mohammad M Al-Qattan1, K Javed1.   

Abstract

BACKGROUND: It is well known that the incidence of nonsyndromal cleft lip and palate varies greatly according to ancestry: 0.3 to 0.4 per 1000 live births in blacks, one in 1000 in Caucasians, and two in 1000 in Asians and individuals from the central province of Saudi Arabia. Median cleft lip is a variable feature in oral-facial-digital syndrome type I (OFD-I).
OBJECTIVE: To test the hypothesis that genetic factors may determine the lip phenotype in OFD-I patients.
METHODS: A study involving 15 Saudi girls (from the central province of Saudi Arabia) with OFD-I showed a high rate (93.3%) of median cleft lip and palate. This rate in OFD-I patients is known to range from 33% to 56% in Caucasians and also known to be very low in blacks. The authors compared the rate of median cleft lip with or without cleft palate in the Arabian series (93.3%) with the rate in Caucasians and blacks.
RESULTS: The difference in median cleft lip with or without cleft palate among the three groups was significant.
CONCLUSION: This supports the hypothesis that ancestral genetic factors may determine the lip phenotype in OFD-I patients.

Entities:  

Keywords:  Arabs; Expression; Oral-facial-digital; Saudi

Year:  2014        PMID: 25535458      PMCID: PMC4271749          DOI: 10.4172/plastic-surgery.1000895

Source DB:  PubMed          Journal:  Plast Surg (Oakv)        ISSN: 2292-5503            Impact factor:   0.947


  29 in total

1.  Oral-facial-digital syndrome, Type I: a case report.

Authors:  N M King; A M E Sanares
Journal:  J Clin Pediatr Dent       Date:  2002       Impact factor: 1.065

2.  Fetal polycystic kidney disease in oro-facio-digital syndrome type I.

Authors:  G Nishimura; S Kuwashima; T Kohno; C Teramoto; H Watanabe; T Kubota
Journal:  Pediatr Radiol       Date:  1999-07

3.  Common birth defects in South African Blacks.

Authors:  J G Kromberg; T Jenkins
Journal:  S Afr Med J       Date:  1982-10-16

4.  Variability of expression of the orofaciodigital syndrome type I in black females: six cases.

Authors:  C F Salinas; G S Pai; C L Vera; J Milutinovic; R Hagerty; J D Cooper; D R Cagna
Journal:  Am J Med Genet       Date:  1991-03-15

5.  A case-control study of nonsyndromic oral clefts in Maryland.

Authors:  T H Beaty; H Wang; J B Hetmanski; Y T Fan; J S Zeiger; K Y Liang; Y F Chiu; C A Vanderkolk; K C Seifert; E A Wulfsberg; G Raymond; S R Panny; I McIntosh
Journal:  Ann Epidemiol       Date:  2001-08       Impact factor: 3.797

6.  Cone-shaped epiphyses in the toes and trifurcation of the soft palate in oral-facial-digital syndrome type-I.

Authors:  M M al-Qattan
Journal:  Br J Plast Surg       Date:  1998-09

7.  Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease.

Authors:  D Donnai; L Kerzin-Storrar; R Harris
Journal:  J Med Genet       Date:  1987-02       Impact factor: 6.318

8.  Oro-facio-digital syndromes I and II: radiological methods for diagnosis and the clinical variations.

Authors:  G Annerén; B Arvidson; K H Gustavson; H Jorulf; G Carlsson
Journal:  Clin Genet       Date:  1984-09       Impact factor: 4.438

9.  Epidemiology of oral clefts in a large South American sample.

Authors:  B G Menegotto; F M Salzano
Journal:  Cleft Palate Craniofac J       Date:  1991-10

10.  Buccal anomalies, cephalometric analysis and genetic study of two sisters with orofaciodigital syndrome type I.

Authors:  Martín Romero; Brunella Franco; Jaime Sánchez del Pozo; Ana Romance
Journal:  Cleft Palate Craniofac J       Date:  2007-11
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.