Phenotypic variability in Muenke syndrome—observations from five Danish families

Muenke syndrome is a craniosynostosis syndrome associated with the p.Pro250Arg mutation in FGFR3. An increasing number of individuals with this mutation are reported to not have craniosynostosis. The purpose of this report is to increase awareness of the high phenotypic variability seen in Muenke syndrome. DNA testing for the p.Pro250Arg mutation is routinely performed in Denmark, in children presenting with isolated coronal synostosis. Verified diagnosis entails detailed family history, drawing of family pedigree, DNA testing of the parents, genetic counseling, skull radiographs, clinical photographs, and follow-up. Sixteen individuals from 5 Danish families with Muenke syndrome are presented. Large phenotypic variation was seen both within and across families. The most striking observations were that 6/16 (38%) cases did not have craniosynostosis and one individual presented with a normal phenotype. In addition, 3 unrelated cases had incomplete cleft palate, submucous cleft palate, and bifid uvula, respectively. There is strong evidence for reduced penetrance of the craniosynostosis trait in Muenke syndrome. We argue that many studies on Muenke syndrome have been influenced by ascertainment bias in regard to craniosynostosis. In addition, it is suggested that oral clefting might be part of the clinical spectrum seen in Muenke syndrome.
Source: Clinical Dysmorphology - Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

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ConclusionsThe amount of maxillary advancement does not affect the velopharyngeal function in cleft patients.
Source: Journal of Cranio Maxillofacial Surgery - Category: ENT & OMF Source Type: research
CONCLUSION: We conclude that 8-year-old children born with UCLP display multiple dental anomalies. The Scandcleft sample allowed rarely studied conditions such as infraocclusion of primary molars and transposition to be studied in children born with UCLP. TRIAL REGISTRATION: ISRCTN29932826. PMID: 31579919 [PubMed - as supplied by publisher]
Source: European Journal of Orthodontics - Category: Dentistry Authors: Tags: Eur J Orthod Source Type: research
ConclusionsOSCS is a rare disorder. Diagnosis can often be challenging because other diseases, such as osteopetrosis, pyknodysostosis, Paget disease of bone, and other sclerosing bone dysplasias, make this difficult to diagnose. Radiologists should be aware of the specific radiographic appearance of this condition to aid in the proper diagnosis and management of these patients.
Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology - Category: ENT & OMF Source Type: research
(OSCS) is a rare x-linked genetic disorder that has variable clinical findings but specific radiographic features, which include marked sclerosis of the long bones and axial skeleton, including the skull. Linear striations, commonly seen in the long bones, are the basis for the name osteopathia striata. Maxillofacial manifestations can include a cleft palate, high palatal vault, midface hyperplasia, hypoplastic maxillary sinuses, enlarged alveolar bone processes, temporomandibular joint (TMJ) abnormalities, and dense mandibular bone with variable striations.
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - Category: ENT & OMF Authors: Source Type: research
In this study the authors aimed to evaluate craniofacial morphology and facial soft tissue thickness of the patients with cleft lip and palate.(CLP), and to compare the results with a sex and age-matched noncleft healthy control group. Methods: Craniofacial and soft tissue thickness measurements of 20 patients with unilateral cleft lip palate (UCLP) and 20 patients with bilateral cleft lip palate (BCLP) were compared with 20 noncleft control subjects. Angles between Sella-Nasion-A point, Sella-Nasion-B point, Nasion-A and Nasion-B line, Sella-Nasion line and Gonion-Gnation line, and linear (glabella, rhinion, subnasale,...
Source: Journal of Craniofacial Surgery - Category: Surgery Tags: Original Articles Source Type: research
AbstractOral submucous fibrosis (OSF) is a chronic disease and a well-recognized potentially malignant condition of the oral cavity characterized by inflammation and a progressive fibrosis of the lamina propria and deeper connective tissues. To study the morphology of soft palate in different stages of OSF on digital lateral cephalogram. To compare the changes in morphology of soft palate in OSF patients with control. The study was conducted from 2017 to 2018 on 217 patients with their age ranging from 17 to 60  years. All patients detailed clinical examination and history was taken and cephalometric evaluation was do...
Source: Indian Journal of Otolaryngology and Head and Neck Surgery - Category: ENT & OMF Source Type: research
This article illustrates a case of Kniest dysplasia that presented for orthodontic treatment. The purpose of this literature review is to describe clinical manifestations, radiographic features, histopathological features, genetic mutation, and management of Kniest dysplasia. PMID: 31213073 [PubMed - as supplied by publisher]
Source: The Cleft Palate-Craniofacial Journal - Category: ENT & OMF Authors: Tags: Cleft Palate Craniofac J Source Type: research
ABSTRACT Objective: Evaluating the development of the permanent cuspids in children from Para íba with cleft lip and palate applying the Nolla and the Demirjian methods. Methods: A cross-sectional study using an inductive approach and applying a comparative statistical procedure and direct documentation research technique. The universe of the study consisted of children assisted at the ort hodontic practice of the Brazilian Association of Dentistry - Paraíba Section. The sample comprised 72 pairs of panoramic radiographs of children with and without cleft lip and palate from the same gender and, age differenc...
Source: RGO - Revista Gaucha de Odontologia - Category: Dentistry Source Type: research
The aim of the present study is to test the feasibility of modified Z-plasty palatoplasty for cleft palate repair in surgeries and provide a new surgical method. Forty cleft palate patients were selected as participants and divided into 2 groups in random. Twenty patients in the experiment group were treated by modified Z-plasty palatoplasty while the other 20 patients in the control group by double opposing Z-plasty and Sommerlad palatoplasty. By evaluating and observing postoperative velopharyngeal movement, speech intelligibility, nasal leaking, analysis of CSL (Computer Structure Language) and X-ray velopharyngeal late...
Source: Journal of Craniofacial Surgery - Category: Surgery Tags: Clinical Studies Source Type: research
Objectives: The aim of the study was to explore the effectiveness of the cleft-adjacent teeth moved into the grafted alveolar bone in unilateral cleft lip and palate (UCLP) patients, and to evaluate the alveolar bone support of the teeth. Methods: Twenty unilateral cleft lip and palate patients were recruited in this study. The average age was 12 years and 8 months. Periapical radiographs were taken for the cleft-adjacent teeth 3 months after bone grafting (T1) and after teeth moving into the grafted bone (T2), and for the contralateral teeth (T3) when teeth aligned. Alveolar bone support of the moved teeth and the co...
Source: Journal of Craniofacial Surgery - Category: Surgery Tags: Brief Clinical Studies Source Type: research
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