Identification and Recent Approaches for Evaluation and Management of Rehabilitation Concerns for Patients with Freeman–Burian Syndrome: Principles for Global Treatment

Freeman–Burian syndrome, formerly Freeman–Sheldon syndrome, is a rare congenital complex myopathic craniofacial syndrome that frequently involves extremity joint deformities, abnormal spinal curvatures, and chest wall mechanical problems that, together with spinal deformities, impair pulmonary function. As part of a clinical practice guideline development, we evaluated 19 rehabilitation-related articles from our formal systematic review, and from these and our experience, we describe rehabilitation considerations. Research in this area has widespread methodologic problems. While many challenges are present, much can be done to afford these patients a good quality of life through careful planning.

Effect of the Visual Presentation of a Craniofacial Syndrome on Speech Intelligibility in Noise

Objective: Research has argued that a speaker’s facial appearance can result in an “intelligibility cost” for the listener. The study investigated whether such an intelligibility cost exists for a visible repaired cleft lip and nasal asymmetry. Setting: University department. Participants: Eight typical speakers provided speech samples. Twenty-eight naive listeners participated in a speech in noise experiment. Interventions: Listeners transcribed sentences in noise that were paired with faces of individuals with repaired cleft lip and nasal asymmetry or typical faces. They also rated speaker intelligibility and answered a questionnaire about their previous knowledge about cleft lip and palate. Main Outcome Measures: Percentage of words transcribed correctly and intelligibility ratings, compared by experimental condition (photo of typical face or face with repaired cleft lip and nasal asymmetry) and speaker gender. Results: There were no statistically significant differences between speech stimuli that were presented with faces with repaired cleft lip and nasal asymmetry or typical faces. The percentage of words transcribed correctly by the listeners was lower for female speakers ( F = 12.7, df = 1; P < .01). Speech intelligibility of female speakers was rated more poorly ( F = 10.5, df = 1; P < .01). Conclusions: Presence of a repaired cleft lip and nasal asymmetry did not result in an intelligibility cost for naive listeners. Future research should investigate possible effects of facial motion or previous knowledge.

Using human sequencing to guide craniofacial research

ABSTRACTA recent convergence of technological innovations has re-energized the ability to apply genetics to research in human craniofacial development. Next-generation exome and whole genome sequencing have dropped in price significantly making it relatively trivial to sequence and analyze patients and families with congenital craniofacial anomalies. A concurrent revolution in genome editing with the use of the CRISPR-Cas9 system enables the rapid generation of animal models, including mouse, which can precisely recapitulate human variants. Here we summarize the choices currently available to the research community. We illustrate this approach with the study of a family with a novel craniofacial syndrome with dominant inheritance pattern. The genomic analysis suggest a causal variant in AMOTL1 which we modeled in mice. We also made a novel deletion allele of Amotl1. Our results indicate that Amotl1 is not required in the mouse for survival to weaning. Mice carrying the variant identified in the human sequencing studies, however, do not survive to weaning in normal ratios. The cause of death is not understood for these mice complicating our conclusions about the pathogenicity in the index patient. Thus, we highlight some of the powerful opportunities and confounding factors confronting current craniofacial genetic research.

Head First, Not Feet First

The historical and clinical basis for classification of Freeman-Sheldon syndrome as a craniofacial syndrome and explanation of the rationale underlying this decision is provided. Correctly classifying the condition will avoid confusion and may help to clarify the vernacular employed and eventually aid in improving diagnosis.

Rare Expression Of Van Der Wound Syndrome: A Case Report Revisited

Background: Van der Woude syndrome (VWS) is a rare developmental malformation, characterized by pits in the lower lip. Van der Woude syndrome is an autosomal dominant craniofacial syndrome with various expression: lower lip pits, cleft lip with or without cleft palate, syngnathia, hypoodontia, and ankyloglossia. Extra-oral abnormalities findings can be found: syndactily, corpus callosum dysgenesis, megacolon, ventricular septal defect and genital abnormality. Methods: We reported a case of 5-month-old male with rare expression of VWS: bilateral cleft lip and palate, syngnathia, lower lip pits, ptosis of upper left eyelid and macropenis. Results: We perform surgery to release the fibrous band to achieve satisfactory maximum mouth opening. Next we perform cheiloplasty and lower lip pit removal. Conclusion: Proper surgical intervention in VWS patients can improve feeding and prevent further temporomandibular complications. Careful examination of patients with cleft lip and lower lip pit should be done to avoid misdiagnosis.