Four putative pathogenic ARHGAP29 variants in patients with non-syndromic orofacial clefts (NsOFC).

The pathophysiological basis of non-syndromic orofacial cleft (NsOFC) is still largely unclear. However, exome sequencing (ES) has led to identify several causative genes, often with reduced penetrance. Among these, the Rho GTPase activating protein 29 (ARHGAP29) has been previously implicated in 7 families with NsOFC.

Likely Pathogenic Variants in One Third of Non-Syndromic Discontinuous Cleft Lip and Palate Patients.

Oral clefts are composed of cleft of the lip, cleft of the lip and palate, or cleft of the palate, and they are associated with a wide range of expression and severity. When cleft of the palate is associated with cleft of the lip with preservation of the primary palate, it defines an atypical phenotype called discontinuous cleft. Although this phenotype may represent 5% of clefts of the lip and/or palate (CLP), it is rarely specifically referred to and its pathophysiology is unknown.

Unmasking familial CPX by WES and identification of novel clinical signs.

Mutations in the T-Box transcription factor gene TBX22 are found in X-linked Cleft Palate with or without Ankyloglossia syndrome (CPX syndrome). In addition to X-linked inheritance, ankyloglossia, present in the majority of CPX patients, is an important diagnostic marker, but it is frequently missed or unreported, as it is a "minor" feature. Other described anomalies include cleft lip, micro and/or hypodontia, and features of CHARGE syndrome.

Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes.

Background: Oral clefts, that is, clefts of the lip and/or cleft palate (CL/P), are the most common craniofacial birth defects with an approximate incidence of ~1/700. To date, physicians stratify patients with oral clefts into either syndromic CL/P (syCL/P) or non-syndromic CL/P (nsCL/P) depending on whether the CL/P is associated with another anomaly or not. In general, patients with syCL/P follow Mendelian inheritance, while those with nsCL/P have a complex aetiology and, as such, do not adhere to Mendelian inheritance.

Hydrosurgery, a new therapeutic perspective in early care of giant congenital nevi: a preliminary series of four cases.

Background: Congenital melanocytic nevi are present at birth or may appear in the first weeks of life. Small and medium-size lesions are relatively common, affecting approximately 1% of newborns; large or giant melanocytic nevi occur in 1/20,000-1/500,000 births. The main concern raised by these lesions is their potential risk of degeneration which is strongly size-dependent and estimated in the literature between 0% and 40% over a lifetime.

Pregnancy and neonatal outcome following an antenatal diagnosis of cleft lip and palate.

Aim: To identify the significance of associated antenatal ultrasound findings on long-term prognosis following the antenatal diagnosis of cleft lip/palate [CL(P)].

Patients And Methods: Retrospective case note analysis of patients seen at a single tertiary referral centre with a diagnosis of CL(P). The patients were classified as those with unilateral or bilateral clefts and then further subdivided according to the presence of associated anomalies, and these were related to pregnancy and neonatal outcome.

Combination of tissue expansion and porcine mesh for secondary abdominal wall closure after pediatric liver transplantation.

We report the case of a two and a half yr boy hospitalized in our Pediatric Transplantation Unit for portal vein thrombosis following liver transplantation. After performing a meso-Rex shunt, abdominal wall closure was impossible without compressing the portal flow. A combination of two techniques was used to perform the reconstruction of the muscular fasciae and skin layers.

FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish.

Cranial neural crest (CNC) is a multipotent migratory cell population that gives rise to most of the craniofacial bones. An intricate network mediates CNC formation, epithelial-mesenchymal transition, migration along distinct paths, and differentiation. Errors in these processes lead to craniofacial abnormalities, including cleft lip and palate.

Congenital erosive and vesicular dermatosis with reticulated scarring in a newborn: an innovative treatment using a silicone dressing.

Congenital erosive and vesicular dermatosis healing with reticulated supple scarring is a rare entity presenting in the newborn with crusted erosions and vesicles that heal relatively rapidly, forming unique reticulated scars. We report the case of a premature baby 31 weeks old. Diagnosis was confirmed by skin biopsies, and the clinical improvement was excellent, with complete healing observed within 7 weeks.

Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome.

Purpose: Interferon regulatory factor 6 encodes a member of the IRF family of transcription factors. Mutations in interferon regulatory factor 6 cause Van der Woude and popliteal pterygium syndrome, two related orofacial clefting disorders. Here, we compared and contrasted the frequency and distribution of exonic mutations in interferon regulatory factor 6 between two large geographically distinct collections of families with Van der Woude and between one collection of families with popliteal pterygium syndrome.

Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population.

Cleft lip with or without cleft palate is the most frequent craniofacial malformation in humans ( approximately 1/700). Its etiology is multifactorial; some are a result of a genetic mutation, while others may be due to environmental factors, with genetic predisposition playing an important role. The prevalence varies widely between populations and the mode of inheritance remains controversial.