The Spectrum of Orofacial Clefting

Eppley, Barry L.; Aalst, John A. van; Robey, Ashley B.; Havlik, Robert J.; Sadove, A. Michael

doi:10.1097/01.prs.0000164494.45986.91

Cited by 138 publications

(112 citation statements)

References 68 publications

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“…Median cleft has an incidence of o1 in a million births. 2 To the best of our knowledge, no familial isolated median clefts of both the upper lip and lower lip have been reported.…”

Section: Introductionmentioning

confidence: 92%

“…The most common forms are lateral clefts, and they vary greatly in severity -from only a small notch in the vermilion to a complete cleft that in some cases extends into the palate, or the cleft can involve only the palate. 2,3 Isolated lateral clefts encompass the non-syndromic cleft lip -with or without cleft palate (CL/P) -and non-syndromic cleft palate only. Commonly, an isolated cleft lip (CL) is limited to the upper lip on either side of the philtrum (midline groove).…”

Section: Introductionmentioning

confidence: 99%

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A homozygous 237-kb deletion at 1p31 identified as the locus for midline cleft of the upper and lower lip in a consanguineous family

et al. 2013

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Orofacial clefts are congenital defects that vary widely in type and severity, and can occur in isolation or in association with a variety of other defects. Herein, we describe a consanguineous family afflicted with a unique form of orofacial clefting manifesting as a facial midline defect that also involves mandibular and maxillary structures. All four affected sibs had median clefts of the upper and lower lips, tooth misalignment, and poor oral hygiene. Linkage analysis of 17 family members identified a 15.3-Mb pair recessive locus at 1p31 with a LOD score of 3.63. To the best of our knowledge, this is, to date, the first locus reported for facial midline clefting and the first recessive locus for an isolated orofacial defect. The locus harboured a novel intergenic deletion of 273 164 bp, for which all fully affected sibs were homozygous. We did not note any potentially pathogenic gene variant at the 1p31 locus via exome-sequencing analysis. The identified deletion could be harbouring a regulatory element for the gene associated with the orofacial defect. The best candidate for the putative target gene is LHX8, located 49 149 bp upstream of the deletion. The gene is known to be associated with facial development in several animals. Four other family members had a subclinical phenotype -a simple notch in the lower lip or an increase in the interdental distance between the lower incisors -indicative of very low-level expression of the trait.

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“…Median cleft has an incidence of o1 in a million births. 2 To the best of our knowledge, no familial isolated median clefts of both the upper lip and lower lip have been reported.…”

Section: Introductionmentioning

confidence: 92%

Section: Introductionmentioning

confidence: 99%

A homozygous 237-kb deletion at 1p31 identified as the locus for midline cleft of the upper and lower lip in a consanguineous family

et al. 2013

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“…1,3,4 Most arise sporadically and are thought to involve failure of fusion between the medial nasal prominence and the maxillary and lateral nasal processes. 1,4,5 This cleft extends from the nasal ala to the medial canthus, and variably involves skin and soft tissue, cartilage, bone, and mucosa. Incomplete clefts are restricted to disruption of the lateral nasal and maxillary processes, resulting in sparing of the lip.…”

Section: Discussionmentioning

confidence: 99%

“…The differential diagnosis includes a hypersinus, which refers to an increased size of a sinus cavity while remaining within normal bony margins. 4 Pneumosinus dilatans was initially reported in 1898 by Meyes et al, 5 and less than a 100 patients have been described so far. 6 The frontal sinus seems to be the most affected paranasal sinus, followed by the ethmoid, sphenoid, and maxillary respectively.…”

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confidence: 99%

Anthropometrically-Based Surgical Technique for Tessier 3 Cleft Reconstruction

Morgan

Cason

Amm

2016

Journal of Craniofacial Surgery

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Craniofacial clefts are rare entities, with an incidence reported as 1.43 to 4.85 per 100,000 births. The Tessier number 3 cleft, the most medial of the oblique clefts, can manifest as clefting of the lip between the canine and lateral incisors, colobomas of the nasal ala and lower eyelid, and inferior displacement of the medial canthus-frequently disrupting the lacrimal system with extreme variability in expressivity (Eppley).Literature on cleft lip repair is extensive and has evolved to incorporate anthropometric techniques, based on identifiable landmarks and anthropometric measurements that are compared with contralateral unaffected anatomy or population means and tracked over time to assess impact on growth. Recent focus has been placed on "subunit" repair that repairs "like with like." These approaches have resulted in a remarkable reproducibility of methods and outcomes.Facial cleft surgery publications are sparse due to the rarity of the disorders, and consensus has yet to develop on standardized landmarks, reference measurements, and principles of repair. The authors describe a method of correcting incomplete unilateral Tessier 3 cleft based on the principles described above. Intraoperative photographs, including secondary revisions, as well as immediate and long-term postoperative results are presented.

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“…The aetiology of orofacial cleft is poorly understood but regarded as multifactorial. Both genetic, as well as environmental factors have been implicated [30]. In siblings, if the first-born child has got CLP the chances of the second born having CLP is 3% to 4%.…”

Section: Introductionmentioning

confidence: 99%

What is the Risk of Having Offspring with Cleft Lip/Palate in Pre-Maternal Obese/Overweight Women When Compared to Pre-Maternal Normal Weight Women? A Systematic Review and Meta-Analysis

Izedonmwen¹,

Cunningham²,

Macfarlane

2015

JOMR

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Objectives: The purpose of the study was to identify the risk of orofacial cleft in the offspring of women with pre-maternal obesity/overweight when compared with pre-maternal normal weight women. Material and Methods: MEDLINE and EMBASE were searched from 1980 to July 2014 for cohort, case control and cross sectional studies. BMI were categorized according to WHO recommendation: normal weight (BMI 18.5 -24.9), overweight (BMI 25 -29.9) and obese (BMI ≥ 30). Results: Six studies were identified; three case control studies which were used for the meta-analysis and two cross sectional studies and one cohort study. Compared with women of recommended BMI, obese women were at increased odds of pregnancy affected by CLP (OR = 1.16; 95% CI 1, 1.34) and CP (OR = 1.14; 95% CI 0.95, 1.37). Overweight women were also at increased odds of pregnancy affected by CLP (OR = 1.06; 95% CI 0.93, 1.21) but not CP (OR = 0.89; 95% CI 0.75, 1.06). The results of the risk ratios reported in the cross sectional and cohort studies were similar to the results of the meta-analysis. Conclusions:The results of this study reveal that there is an increased risk of having offspring with orofacial cleft in obese/ overweight women. The reason for this association is not known. Although, the risk is small, it is important because of the increasing incidence of obesity.

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The Spectrum of Orofacial Clefting

Cited by 138 publications

References 68 publications

A homozygous 237-kb deletion at 1p31 identified as the locus for midline cleft of the upper and lower lip in a consanguineous family

A homozygous 237-kb deletion at 1p31 identified as the locus for midline cleft of the upper and lower lip in a consanguineous family

Anthropometrically-Based Surgical Technique for Tessier 3 Cleft Reconstruction

What is the Risk of Having Offspring with Cleft Lip/Palate in Pre-Maternal Obese/Overweight Women When Compared to Pre-Maternal Normal Weight Women? A Systematic Review and Meta-Analysis

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