Erratum to "surgical management of the Tessier 7 cleft: A review and presentation of 5 cases" [JPRAS open. Volume 22, December 2019, pages 9-18].

[This corrects the article DOI: 10.1016/j.jpra.

Surgical management of the Tessier 7 cleft: A review and presentation of 5 cases.

Introduction: Several variations on the surgical technique for macrostomia repair have been described in the literature. There has been controversy regarding the preferred method for commissuroplasty and skin closure for optimal functional and aesthetic results. The aim of this study is to present these techniques and the most described methods up to date.

Metastatic basal cell carcinoma caused by carcinoma misdiagnosed as acne - case report and literature review.

Basal cell carcinoma can be misdiagnosed as acne; thus, carcinoma should be considered in treatment-resistant acne. Although rare, neglected basal cell carcinoma increases the risk of metastasis.

Isolated malignant melanoma metastasis to the pancreas.

Malignant melanomas rarely develop isolated pancreatic metastases. We describe a unique patient who is still alive 22 years following an isolated pancreatic melanoma metastasis, and we review the sparse literature in the field.

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.

Auriculocondylar syndrome (ACS) is a rare craniofacial disorder with mandibular hypoplasia and question-mark ears (QMEs) as major features. QMEs, consisting of a specific defect at the lobe-helix junction, can also occur as an isolated anomaly. Studies in animal models have indicated the essential role of endothelin 1 (EDN1) signaling through the endothelin receptor type A (EDNRA) in patterning the mandibular portion of the first pharyngeal arch.

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.

Background: Auriculocondylar syndrome (ACS) is a rare craniofacial disorder consisting of micrognathia, mandibular condyle hypoplasia and a specific malformation of the ear at the junction between the lobe and helix. Missense heterozygous mutations in the phospholipase C, β 4 (PLCB4) and guanine nucleotide binding protein (G protein), α inhibiting activity polypeptide 3 (GNAI3) genes have recently been identified in ACS patients by exome sequencing. These genes are predicted to function within the G protein-coupled endothelin receptor pathway during craniofacial development.

[Late development of carotid dissection after traffic accident].

This case study discusses the clinical manifestations of carotid dissection in a 58-year-old male admitted with minor injuries after a traffic accident. Within 24 hours the patient developed Horner syndrome, hoarseness and possible facial nerve palsy. A CT-angiogram showed dissection of the left carotid artery in its extracranial part.

Expression analyses of human cleft palate tissue suggest a role for osteopontin and immune related factors in palatal development.

Cleft lip and/or palate (CL/P) is a common congenital malformation with a complex etiology which is not fully elucidated yet. Epidemiological studies point to different etiologies in the cleft lip and palate subgroups, isolated cleft lip (CL), isolated cleft palate (CP) and combined cleft lip and palate (CLP). In order to understand the biological basis in these cleft lip and palate subgroups better we studied the expression profiles in human tissue from patients with CL/P.

Cervical spondylodiscitis--a rare complication of palatopharyngeal flap surgery.

Cervical spondylodiscitis was diagnosed in a 31-year-old man 2 months after palatopharyngeal flap surgery. Symptoms included pain in the neck and tingling and numbness in the left arm. The diagnosis was confirmed by magnetic resonance imaging, and the patient recovered on antibiotic treatment.

A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia.

Popliteal pterygium syndrome (PPS) and Van der Woude syndrome (VWS) are caused by mutations in the gene interferon regulatory factor 6 (IRF6). Skeletal, genital malformations and involvement of the skin occur in PPS and orofacial clefting and lip pits occur in both. We report on a patient with unilateral cleft lip and palate, ankyloblepharon, paramedian lip pits, unilateral renal aplasia, and a coronal hypospadias.

Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family.

Cleft lip and/or palate (CL/P) is a common congenital malformation with a complex etiology, as many genes and environmental factors have been shown to play a role in craniofacial development. We used a genetic mapping approach to analyze a family with multiplex CL/P. A genome-wide scan with a 10 kb single nucleotide polymorphism (SNP) chip followed by fine mapping with microsatellite markers in a CL/P multiplex family suggested linkage (maximum multipoint LOD score of 2.

Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2.

Background: The Pierre Robin sequence (PRS), consisting of cleft palate, micrognathia and glossoptosis, can be seen as part of the phenotype in other Mendelian syndromes--for instance, campomelic dysplasia (CD) which is caused by SOX9 mutations--but the aetiology of non-syndromic PRS has not yet been unravelled.

Objective: To gain more insight into the aetiology of PRS by studying patients with PRS using genetic and cytogenetic methods.

Methods: 10 unrelated patients with PRS were investigated by chromosome analyses and bacterial artificial chromosome arrays.

The genetic basis of the Pierre Robin Sequence.

Objective: The Pierre Robin Sequence (PRS) is subgroup of the cleft palate population. As with the etiology of cleft lip or palate, the etiology of PRS is generally unknown. Some factors are suggestive of a genetic basis for PRS.

Occurrence of cleft lip and palate in the Faroe Islands and Greenland from 1950 to 1999.

Objective: To describe the occurrence of cleft lip with or without cleft palate (CL/P) and isolated cleft palate (CP) in the Faroe Islands and Greenland over a 50-year time period that has included substantial changes in lifestyle.

Design: A prevalence study based on patient records obtained from the Institute of Speech and Hearing Disorders in Copenhagen, Denmark, at which the treatment of patients with CP and CL/P from Greenland, the Faroe Islands, and Denmark is coordinated.

Participants: All live-born children in the Faroe Islands, Greenland, and Denmark with CL/P or CP born in the period 1950 to 1999 (Faroe Islands and Greenland) and 1950 to 1987 (Denmark).