Non-syndromic double upper lip with triple frena: cosmetic cheiloplasty

Double lip or macrocheilitis is a rare facial anomaly, mostly congenital in origin. It commonly involves the upper lip than the lower lip. It may occur in isolation or as part of the Ascher’s syndrome. It results due to deposition of excessive areolar tissue and non-inflammatory hyperplasia of labial mucosa gland of pars villosa. It may be acquired as a result of injury to the lips or lip-biting habit. The double lip becomes conspicuous when the lips are retracted during smiling resulting in the characteristic ‘cupid’s bow’ appearance. This disfigurement can pose aesthetic and functional problems and may result in psychological distress. A surgical intervention is must for restoration of functions and to address the aesthetic concerns. The present article reports a case of non-syndromic double upper lip with triple labial frena and its surgical management with laser on one side and with scalpel on the other side.

Haploinsufficiency of SF3B2 causes craniofacial microsomia

Craniofacial microsomia (CFM) is the second most common congenital facial anomaly, yet its genetic etiology remains unknown. We perform whole-exome or genome sequencing of 146 kindreds with sporadic (n = 138) or familial (n = 8) CFM, identifying a highly significant burden of loss of function variants in SF3B2 (P = 3.8 × 10−10), a component of the U2 small nuclear ribonucleoprotein complex, in probands. We describe twenty individuals from seven kindreds harboring de novo or transmitted haploinsufficient variants in SF3B2. Probands display mandibular hypoplasia, microtia, facial and preauricular tags, epibulbar dermoids, lateral oral clefts in addition to skeletal and cardiac abnormalities. Targeted morpholino knockdown of SF3B2 in Xenopus results in disruption of cranial neural crest precursor formation and subsequent craniofacial cartilage defects, supporting a link between spliceosome mutations and impaired neural crest development in congenital craniofacial disease. The results establish haploinsufficient variants in SF3B2 as the most prevalent genetic cause of CFM, explaining ~3% of sporadic and ~25% of familial cases.

Cleft lip and palate

Cleft lip and palate is the most common facial anomaly in the UK. This chapter describes the cleft lip and palate, alongside their aetiology and diagnosis. It then describes the management of the cleft lip, including principles, surgical options, the unilateral and bilateral cleft lip and palate, and then the management of the palate and alveolus. Revision procedures are outlined. The management of the nose and orthognathic surgery for different cleft types are all outlined. Speech development, hearing, and orthodontics are all covered. Finally, there is a section on psychology, and the importance of a clinical psychologist to monitor important transitional points in the child.

The Face Image Meta-Database (fIMDb) & ChatLab Facial Anomaly Database (CFAD): Tools for research on face perception and social stigma

There is increasing demand by investigators for high quality face photographs they can use in service of their scholarly pursuits—whether serving as experimental stimuli or to benchmark face recognition algorithms. Up to now, an index of known face databases, their features, and how to access them has not been available. This lack has had at least two negative repercussions: First, without alternatives, some researchers may have used face databases that are widely known but not optimal for their research. Second, a reliance on databases comprised only of white faces may lead to science that isn’t representative of all the people whose tax dollars, in many cases, make that research possible. The “Face Image Meta-Database” (fIMDb) provides researchers with the tools to find the face images best suited to their research, with filters to locate databases with people of a varied racial and ethnic backgrounds and ages. Problems of representation in face databases are not restricted to race and ethnicity or age – there is a dearth of databases with faces that have visible anomalies (e.g., scars, port wine stains, and cleft lip and palate). A well-characterized database is needed to support programmatic research into perceivers’ attitudes, behaviors and neural responses to anomalous faces. The “ChatLab Facial Anomaly Database” (CFAD) was constructed to fill this gap, with photographs of facial anomalies of different types, etiologies, sizes, locations, and that depict individuals from various ethnic backgrounds and age groups. Both the fIMDb and CFAD are available from: http://cliffordworkman.com/resources/.

HUBUNGAN UKURAN DEFEK OMPHALOCELE TERHADAP KELAINAN KONGENITAL PENYERTA

Background: Omphalocele is often associated with the presence of other congenital anomalies. One study says that a small of defect omphalocele is often accompanied by intestinal disorders and have a better prognosis. Based on this study the researcher wants to review the relationship between the size of omphalocele defect and the presence of associated congenital anomaly in Hasan Sadikin Hospital. Methods: This is a retrospective cross-sectional study. All patient with omphalocele between January 2007 – March 2012 were included in this study. Data collected were patient demographics, size of omphalocele defect and congenital anomalies identified. In this study, patients were designated as those with small (4 cm and less) or large (greater than 4 cm) defect omphaloceles. This study analyzed correlation between size of defect with associated anomaly using Fisher exact test and p < 0.05 is considered to be significant. Results: There were 52 omphalocele cases (24 girls, 28 boys), median birth weight 2710gr (range 1300gr–4000gr). Twenty seven patients were classified as small defect, with 25 classified as large defect. Anomaly found in the small defect groups consists of facial anomaly (7%); cardiac anomaly (7%); intestinal disorder (22%,P=0,02) include patent omphalomesentericus duct, anorectal malformation and cloaca extrophi; limb anomaly (7%). Meanwhile, anomalies identified in the large defect group consist of facial anomaly (8%); cardac defect (32%) include dextrocardi and tetralogi Fallot; limb anomaly (16%).In this study, cardiac defects was significantly higher in the large defect group, meanwhile intestinal diorder is statistically significant in small defect groups. Conclusion: Small defect omphalocele correlates with an increased prevalence of associated gastrointestinal anomalies and a lower prevalence of cardiac anomalies.