Non-syndromic double lip

Non-syndromic double lip.

To cite: Mohan RPS, Verma S, Singh A, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2013-008664 DESCRIPTION A 57-year-old man reported to the outpatient department with the chief compliant of deformed upper lip which was present since birth. He denied any complaints other than cosmetic ones. On examination, an extra fold of redundant tissue was present o...

IRF6 polymorphisms in Mexican patients with non-syndromic cleft lip

Cleft lip with or without cleft palate (CL/P) is one of the most common birth defects; it is a multifactorial disease affecting > 1/1,000 live births in Europe, and its etiology is largely unknown, although it is very likely genetic and environmental factors contribute to this malformation. Orofacial development is a complex process involving many genes and signaling pathways. Mutations in the ...

Application of Genetic Analyses in Studies of Syndromic and Non-syndromic Cleft Lip and Palate

Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts.

Clefts of the lip and/or palate (CL/P) are among the most common birth defects worldwide. The majority are non-syndromic where CL/P occurs in isolation of other phenotypes. Where one or more additional features are involved, clefts are referred to as syndromic. Collectively CL/P has a major clinical impact requiring surgical, dental, orthodontic, speech, hearing and psychological treatments or ...

Syndromic and non-syndromic forms of XLMR

| Genetic factors have an important role in the aetiology of mental retardation. However, their contribution is often underestimated because in developed countries, severely affected patients are mainly sporadic cases and familial cases are rare. X-chromosomal mental retardation is the exception to this rule, and this is one of the reasons why research into the genetic and molecular causes of m...