Freeman-Sheldon Syndrome Presenting with Microstomia: A Case Report and Literature Review

Gurjar, Vivek; Parushetti, Anita; Gurjar, Minal

doi:10.1007/s12663-012-0392-4

Cited by 19 publications

(22 citation statements)

References 26 publications

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“…Interestingly, mutations in MYH3 usually lead to a rare and severe form of arthrogryposis and myopathy also known as Freeman-Sheldon/Sheldon-Hall syndrome [12]. Mild clinical presentations, as well as rhabdomyolysis, have been reported in this syndrome [28]. …”

Section: Discussionmentioning

confidence: 99%

Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases

et al. 2017

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Background Rhabdomyolysis is a clinical emergency that may cause acute kidney injury (AKI). It can be acquired or due to monogenic mutations. Around 60 different rare monogenic forms of rhabdomyolysis have been reported to date. In the clinical setting, identifying the underlying molecular diagnosis is challenging, due to nonspecific presentation, the high number of causative genes, and current lack of data on the prevalence of monogenic forms. Methods We employed whole exome sequencing (WES) to reveal the percentage of rhabdomyolysis cases explained by single-gene (monogenic) mutations in one of 58 candidate genes. We investigated a cohort of 21 unrelated families with rhabdomyolysis. in whom no underlying etiology had been previously established. Results Using WES, we identified causative mutations in candidate genes in nine of the 21 families (43%). We detected disease-causing mutations in eight of 58 candidate genes, grouped into the following categories: 1) disorders of fatty acid metabolism (CPT2), 2) disorders of glycogen metabolism (PFKM and PGAM2), 3) disorders of abnormal skeletal muscle relaxation and contraction (CACNA1S, MYH3, RYR1 and SCN4A), and 4) disorders of purine metabolism (AHCY). Conclusions Our findings demonstrate a very high detection rate for monogenic etiologies using WES and reveal broad genetic heterogeneity for rhabdomyolysis. These results highlight the importance of molecular genetic diagnostics for establishing an etiologic diagnosis. Because these patients are at risk for recurrent episodes of rhabdomyolysis and subsequent risk for AKI, WES allows adequate prophylaxis and treatment for these patients and their family members and enables a personalized medicine approach.

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Section: Discussionmentioning

confidence: 99%

Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases

et al. 2017

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“…We found some reports of human syngnathia that also described the accompanying clinical feature of microstomia (Dobrow, 1983;Brown and Marsh, 1990;Valnicek and Clarke, 1993;Kamata et al, 1996;Dawson et al, 1997;Erlich et al, 2000;Daniels, 2004;Verloes et al, 2004;Parkins and Boamah, 2009;Villanueva-Garcia et al, 2009;Halli et al, 2010;Rezende Gde et al, 2013;Konas et al, 2015;Patel et al, 2015). In addition, the congenital microstomia frequently accompanied varying degrees of mandibular deformity, including syngnathia, dysgnathia (deformed jaw) or agnathia (absence of jaw) (Guion-Almeida et al, 2002;Rajan et al, 2007;Schmotzer and Shehata, 2008;Chassaing et al, 2012;Donnelly et al, 2012;Gordon et al, 2013;Gurjar et al, 2013;Patat et al, 2013) These human data and our experimental results may indicate a possible relationship between the microstomia and the maxillomandibular malformation or syngnathia. In chicken embryos, the beak tip to commissure can be interpreted as the human oral aperture, and our experimental embryos clearly showed the small beak mimicking microstomia, as seen in Figure 3F,G, as well as the measurements of decreased length in beak commissure to tip, as in Table 1.…”

Section: Developmental Dynamicsmentioning

confidence: 93%

Separate development of the maxilla and mandible is controlled by regional signaling of the maxillomandibular junction during avian development

Tak

Park

Piao

et al. 2016

Developmental Dynamics

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Background: Syngnathia is a congenital craniofacial disorder characterized by bony or soft tissue fusion of upper and lower jaws. Previous studies suggested some causative signals, such as Foxc1 or Bmp4, cause the disruption of maxillomandibular identity, but their location and the interactive signals involved remain unexplored. We wanted to examine the embryonic origin of syngnathia based on the assumption that it may be located at the separation between the maxillary and mandibular processes. This region, known as the maxillomandibular junction (MMJ), is involved in segregation of cranial neural crestderived mesenchyme into the presumptive upper and lower jaws. Results: Here we investigated the role of Fgf, Bmp, and retinoid signaling during development of MMJ in chicken embryos. By changing the levels of these signals with bead implants, we induced syngnathia with microstomia on the treated side, which showed increased Barx1 and neural cell adhesion molecule (NCAM) expression. Redistribution of proliferating cells was also observed at the proximal region to maxillary and mandibular arch around MMJ. Conclusions: We propose that interactive molecular signaling by Fgfs, Bmps, and retinoids around MMJ is required for normal separation of the maxilla and mandible, as well as the proper positioning of beak commissure during early facial morphogenesis. Developmental Dynamics 246:28-40,

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“…The oldest individual discussed in a case report was 11 years of age. 12 It could be postulated that following surgical repair to facial structures, the technically difficult airway would be repaired, thus eliminating most complications. Therefore, adult patients with FSS may not be reported in the literature.…”

Section: Discussionmentioning

confidence: 99%

Anesthetic considerations in a parturient with Freeman–Sheldon syndrome

Fisher

Qasem

Armstrong

et al. 2016

International Journal of Obstetric Anesthesia

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Freeman-Sheldon Syndrome Presenting with Microstomia: A Case Report and Literature Review

Cited by 19 publications

References 26 publications

Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases

Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases

Separate development of the maxilla and mandible is controlled by regional signaling of the maxillomandibular junction during avian development

Anesthetic considerations in a parturient with Freeman–Sheldon syndrome

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