Genetic regulatory pathways of split‐hand/foot malformation

Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/146859/1/cge13434-sup-0001-EditorialProcess.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/146859/2/cge13434_am.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/146859/3/cge13434.pd

Clouston syndrome with dental anomalies, micropores of hair shafts and absence of palmoplantar keratoderma

Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/154514/1/jde15236.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/154514/2/jde15236_am.pd

Clouston syndrome with pili canaliculi, pili torti, overgrown hyponychium, onycholysis, taurodontism and absence of palmoplantar keratoderma

Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/155882/1/jde15333.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/155882/2/jde15333_am.pd

TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology

Trichorhinophalangeal syndrome type 1 (TRPS1; Online Mendelian Inheritance in Man #190350) is an autosomal dominant disorder caused by mutations in TRPS1. We report a Thai male with TRPS1 who carried a c.1842C>T (p.Arg615Ter) mutation. He had 15 supernumerary teeth, double mental foramina, hypoplastic mandibular condyles with slender condylar necks and unique ultrastructural hair findings. Body hair was absent. The hair in the area of a congenital melanocytic nevus had a greater number of hair cuticles than normal. Occipital hair had abnormal hair follicles and cuticles. The scale edges of the hair cuticles were detached and rolled up. Hypoplastic mandibular condyles with slender condylar necks, double mental foramina and the rolled up edges of hair cuticles have not been reported in patients with TRPS1.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/155929/1/jde15360.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/155929/2/jde15360_am.pd

Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes

Treacher Collins syndrome (TCS: OMIM 154500) is an autosomal dominant craniofacial disorder belonging to the heterogeneous group of mandibulofacial dysostoses.ObjectiveTo investigate four Treacher Collins syndrome patients of the Sgaw Karen family living in Thailand.MethodClinical examination, hearing tests, lateral cephalometric analyses, Computed tomography, whole exome sequencing and Sanger direct sequencing were performed.ResultsAll of the patients affected with Treacher Collins syndrome carried a novel TCOF1 mutation (c.4138_4142del; p.Lys1380GlufsTer12), but clinically they did not have the typical facial gestalt of Treacher Collins syndrome, which includes downward‐slanting palpebral fissures, colobomas of the lower eyelids, absence of eyelashes medial to the colobomas, malformed pinnae, hypoplastic zygomatic bones and mandibular hypoplasia. Lateral cephalometric analyses identified short anterior and posterior cranial bases, and hypoplastic maxilla and mandible. Computed tomography showed fusion of malleus and incus, sclerotic mastoid, hypoplastic middle ear space with a soft tissue remnant, dehiscence of facial nerve and monopodial stapes.ConclusionTreacher Collins syndrome in Sgaw Karen patients has not been previously documented. This is the first report of monopodial stapes in a TCS patient who had a TCOF1 mutation. The absence of a common facial phenotype and/or the presence of monopodial stapes may be the effects of this novel TCOF1 mutation.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/156466/2/coa13560.pdfhttp://deepblue.lib.umich.edu/bitstream/2027.42/156466/1/coa13560_am.pd

Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations

Objective: To investigate dental anomalies and the molecular etiology of a patient with Ellis–van Creveld syndrome and two patients with Bardet–Biedl syndrome, two examples of ciliopathies. Patients and Methods: Clinical examination, radiographic evaluation, whole exome sequencing, and Sanger direct sequencing were performed. Results: Patient 1 had Ellis–van Creveld syndrome with delayed dental development or tooth agenesis, and multiple frenula, the feature found only in patients with mutations in ciliary genes. A novel homozygous mutation in EVC2 (c.703G>C; p.Ala235Pro) was identified. Patient 2 had Bardet–Biedl syndrome with a homozygous frameshift mutation (c.389_390delAC; p.Asn130ThrfsTer4) in BBS7. Patient 3 had Bardet–Biedl syndrome and carried a heterozygous mutation (c.389_390delAC; p.Asn130ThrfsTer4) in BBS7 and a homozygous mutation in BBS2 (c.209G>A; p.Ser70Asn). Her clinical findings included global developmental delay, disproportionate short stature, myopia, retinitis pigmentosa, obesity, pyometra with vaginal atresia, bilateral hydronephrosis with ureteropelvic junction obstruction, bilateral genu valgus, post-axial polydactyly feet, and small and thin fingernails and toenails, tooth agenesis, microdontia, taurodontism, and impaired dentin formation. Conclusions: EVC2, BBS2, and BBS7 mutations found in our patients were implicated in malformation syndromes with dental anomalies including tooth agenesis, microdontia, taurodontism, and impaired dentin formation

An exploratory study investigating children's perceptions of dental behavioural management techniques

Background: Behaviour management techniques (BMTs) are utilised by dentists to aid children's dental anxiety (DA). Children's perceptions of these have been underexplored, and their feedback could help inform paediatric dentistry. Aim: To explore children's acceptability and perceptions of dental communication and BMTs and to compare these by age, gender, and DA. Design: A total of sixty-two 9- to 11-year-old school children participated in the study. Children's acceptability of BMTs was quantified using a newly developed Likert scale, alongside exploration of children's experiences and perceptions through interviews. anova and t-tests explored BMT acceptability ratings by age, gender, and DA. Thematic analysis was used to analyse interviews. Findings: Statistical analyses showed no effect of age, gender, or DA upon BMT acceptability. Children generally perceived the BMTs as acceptable or neutral; stop signals were the most acceptable, and voice control the least acceptable BMT. Beneficial experiences of distraction and positive reinforcement were common. Children described the positive nature of their dentist's communication and BMT utilisation. Conclusion: Dental anxiety did not affect children's perceptions of BMTs. Children were generally positive about dentist's communication and established BMTs. Children's coping styles may impact perceptions and effectiveness of BMTs and should be explored in future investigations

Cleft Lip with Cleft Palate, Ankyloglossia, and Hypodontia are Associated with TBX22 Mutations

X-linked cleft palate and ankyloglossia (CPX) are caused by mutations in the TBX22 transcription factor. To investigate whether patients with ankyloglossia alone or in the presence of other craniofacial features including hypodontia or CLP might be caused by TBX22 mutations, we analyzed 45 Thai patients with isolated ankyloglossia, 2 unusual CPA families, and 282 non-syndromic Thai and UK patients with CLP. Five putative missense mutations were identified, including 3 located in the T-box binding domain (R120Q, R126W, and R151L) that affects DNA binding and/or transcriptional repression. The 2 novel C-terminal mutations, P389Q and S400Y, did not affect TBX22 activity. Mutations R120Q and P389Q were identified in patients with ankyloglossia only, while R126W and R151L were present in families that included CLP. Several individuals in these families were also found to have micro/hypodontia. This study has expanded the phenotypic spectrum of TBX22-related mutations to include dental anomalies and cleft lip