Publications by authors named "Linda P Jakobsen"

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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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).

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