Disease relevance of Cleft Lip

• Malignant mesenchymoma developed in an 18-year-old patient with phenytoin-associated cleft lip and palate [1].
• Association between cleft lip with or without cleft palate and prenatal exposure to diazepam [2].
• A positive in-vitro challenge was highly correlated with major birth defects, including congenital heart disease, cleft lip/palate, microcephaly, and major genitourinary, eye, and limb defects [3].
• Opitz syndrome (OS) is a genetically heterogeneous disorder characterized by defects of the ventral midline, including hypertelorism, cleft lip and palate, heart defects, and mental retardation [4].
• Margarita Island ectodermal dysplasia (ED4) is an autosomal recessive disorder characterized by unusual facies, dental anomalies, hypotrichosis, palmoplantar hyperkeratosis and onychodysplasia, syndactyly, and cleft lip/cleft palate [5].

Psychiatry related information on Cleft Lip

• The purpose of this study was to investigate if adolescents with cleft lip, or palate, or both (CLP), have an altered self-concept, and to assess their degree of introversion, compared with a control group [6].

High impact information on Cleft Lip

• Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela [7].
• Cleft lip and palate with the anticonvulsant ethotoin [8].
• The developmental abnormalities produced in offspring of this model are similar to some of the malformations observed in cases of human "fetal hydantoin syndrome." Placing pregnant A/J mice in a hyperoxic chamber after phenytoin injection greatly reduces the incidence of phenytoin-induced cleft lip and palate [9].
• Maternal hyperoxia greatly reduces the incidence of phenytoin-induced cleft lip and palate in A/J mice [9].
• Periconceptional supplementation with vitamins and folic acid to prevent recurrence of cleft lip [10].

Chemical compound and disease context of Cleft Lip

• This report, however, is the second one linking diazepam to cleft lip with or without cleft palate [2].
• Further evidence of a relationship between the retinoic acid receptor alpha locus and nonsyndromic cleft lip with or without cleft palate (CL +/- P) [11].
• Malformations of genetic origin (cleft palates and cleft lips) in CL/Fr mice were also suppressed significantly by caffeine treatment on Days 8 to 11, although the level of inhibition was less than that in chemically induced malformations [12].
• Does the interaction between maternal folate intake and the methylenetetrahydrofolate reductase polymorphisms affect the risk of cleft lip with or without cleft palate [13]?
• A neonate with cleft lip and palate and hypopituitarism had persistent hyponatremia despite treatment with hydrocortisone, L-thyroxine, and growth hormone [14].

Biological context of Cleft Lip

• From 278 interviews of women who had infants with selected major malformations, a history of diazepam ingestion in the first trimester of pregnancy was found to be four times more frequent among mothers of children with a cleft lip with or without a cleft palate than among mothers of children with other defects [2].
• Evidence, from family studies, for linkage disequilibrium between TGFA and a gene for nonsyndromic cleft lip with or without cleft palate [15].
• Most (but not all) studies have found weak but significant association between restriction fragment length polymorphisms at the transforming growth factor alpha (TGFA) locus on chromosome 2p13 and nonsyndromic cleft lip with or without cleft palate (CL +/- P) [16].
• McNemar analysis for case-matched control pairs indicated a somewhat higher maternal metronidazole treatment in the second-third months of gestation in nine cases with cleft lip with or without cleft palate, but it was not possible to exclude the recall bias [17].
• Nonsyndromic cleft lip with or without cleft palate (NSCLP) is one of the most common human malformations with an average prevalence of 1 in 1,000 live births [18].

Anatomical context of Cleft Lip

• Additional features--including microcephaly, cleft lip and palate, horseshoe kidney and hypospadias, ligamentous laxity, recurrent middle ear infections, and abnormal pigmentation--were observed, but each feature was only found once, in a single patient [19].
• van der Woude syndrome (VWS), which has been mapped to 1q32-41, is characterized by pits and/or sinuses of the lower lip, cleft lip/palate (CL/P), cleft palate (CP), bifid uvula, and hypodontia (H) [20].
• Aicardi syndrome, papilloma of the choroid plexus, cleft lip, and cleft of the posterior palate [21].
• As observed in GD 14 or 18 fetuses, the spectrum of induced craniofacial malformations included exencephaly, midfacial clefting, cleft lip, as well as hypotelorism, and synophthalmia associated with holoprosencephaly [22].
• An unusual combination of three rare developmental anomalies, ie, complete median cleft lip, cutaneous polyps, and midline lipomas of the central nervous system, was discovered in a male newborn [23].

Gene context of Cleft Lip

• Moreover, conditional inactivation of the Bmp4 gene using the Nestin cre transgenic line resulted in isolated cleft lip [24].
• With likelihood ratio test analysis, "cleft lip only" showed association with MSX1 (p = 0.04) and "cleft palate only" with TGFB3 (p = 0.02) [25].
• An allelic association between the transforming growth factor alpha gene (TGFA) situated in the chromosome 2p13 region and nonsyndromic cleft lip with or without cleft palate, also named orofacial cleft (OFC), was found in several population studies [26].
• Our independent study group confirms that the IRF6 locus is associated with nonsyndromic cleft lip with or without palate [27].
• Cleft lip embryos recovered in 2.4% of 1485 first backcross (BC1) segregants from a cross of A/WySnJ (24% cleft lip) and C57BL/6J (no cleft lip) in A/WySnJ mothers, and in testcrosses of 10 recombinant inbred (RI) strains (AXB/Pgn or BXA/Pgn), were used for gene mapping and for inference of genetic architecture [28].

Analytical, diagnostic and therapeutic context of Cleft Lip

• Genetic aspects, clinical manifestations, and differential diagnosis of the syndromes involving ectodermal dysplasia/limb anomalies and cleft lip/palate are discussed [29].
• Role of the C677T polymorphism at the MTHFR gene on risk to nonsyndromic cleft lip with/without cleft palate: results from a case-control study in Brazil [30].
• Osseointegrated implants in the oral rehabilitation of a patient with cleft lip and palate and ectodermal dysplasia: a case report [31].
• Mitotic index in mouse embryos with 6-aminonicotinamide-induced and inherited cleft lip [32].
• On the basis of prenatal identification of a cleft lip by embryoscopy, a case of van der Woude syndrome was diagnosed at 11 menstrual weeks, allowing for early termination of pregnancy [33].

References