Oral-facial-digital syndrome type 1 (OMIM #311200) is an X-linked dominant, developmental disorder. Among the 13 described clinical variants of oral-facial-digital syndrome, oral-facial-digital syndrome type 1 is of significance to dermatologists due to presence of congenital milia and hypotrichosis, not described in other variants. Since oral-facial-digital syndrome type 1 is genetically a distinct entity, awareness of these features help to clinically delineate this from other variants.
Matched MeSH terms: Hand Deformities, Congenital/pathology*
Diplopodia is a rare congenital disorder that has not been extensively discussed in textbooks, and case reports appear to be the main source of information. Although the exact cause of diplopodia remains unknown, the presence of extra digits as well as metatarsals and tarsals allows it to be differentiated from pedal polydactyly. Syndactyly refers to the congenital fusion of the digits. Concomitant bilateral syndactyly and diplopodia is extremely unusual, and in this report we describe a case of right diplopodia and left polydactyly combined with bilateral manual syndactyly in a 15-year-old girl who was ultimately treated with through-the-knee amputation. Radiological examination of the right leg revealed tibial hypoplasia and the right foot displayed 8 digits with corresponding metatarsals and tarsals, whereas the left leg revealed 2 extra digits on the medial aspect of the foot with corresponding metatarsal and tarsal bones. Anatomical dissection of the right foot revealed that it was divided into halves consisting of 8 toes with corresponding metatarsals and tarsals, as well as tibial hypoplasia and absence of the great toe. Diplopodia associated with tibial hypoplasia and syndactyly can be treated surgically, and the present case report details the clinical, radiological, and anatomical elements of this rare deformity.
Matched MeSH terms: Hand Deformities, Congenital/pathology; Hand Deformities, Congenital/surgery
An accuracy in the hydrological modelling will be affected when having limited data sources especially at ungauged areas. Due to this matter, it will not receiving any significant attention especially on the potential hydrologic extremes. Thus, the objective was to analyse the accuracy of the long-term projected rainfall at ungauged rainfall station using integrated Statistical Downscaling Model and Geographic Information System (SDSM-GIS) model. The SDSM was used as a climate agent to predict the changes of the climate trend in Δ2030s by gauged and ungauged stations. There were five predictors set have been selected to form the local climate at the region which provided by NCEP (validated) and CanESM2-RCP4.5 (projected). According to the statistical analyses, the SDSM was controlled to produce reliable validated results with lesser %MAE (<23%) and higher R. The projected rainfall was suspected to decrease 14% in Δ2030s. All the RCPs agreed the long term rainfall pattern was consistent to the historical with lower annual rainfall intensity. The RCP8.5 shows the least rainfall changes. These findings then used to compare the accuracy of monthly rainfall at control station (Stn 2). The GIS-Kriging method being as an interpolation agent was successfully to produce similar rainfall trend with the control station. The accuracy was estimated to reach 84%. Comparing between ungauged and gauged stations, the small %MAE in the projected monthly results between gauged and ungauged stations as a proved the integrated SDSM-GIS model can producing a reliable long-term rainfall generation at ungauged station.
Dupuytren contracture is commonly seen in northern European populations but not in Asians. Even more rare is a presentation of flexion deformity of fingers involving two different pathologies with incidental carpal tunnel syndrome in the same patient. We report herein a case of Dupuytren contracture with congenital camptodactyly and unilateral carpal tunnel syndrome.
Coffin-Siris syndrome (CSS, MIM#135900) is a congenital disorder characterized by coarse facial features, intellectual disability, and hypoplasia of the fifth digit and nails. Pathogenic variants for CSS have been found in genes encoding proteins in the BAF (BRG1-associated factor) chromatin-remodeling complex. To date, more than 150 CSS patients with pathogenic variants in nine BAF-related genes have been reported. We previously reported 71 patients of whom 39 had pathogenic variants. Since then, we have recruited an additional 182 CSS-suspected patients. We performed comprehensive genetic analysis on these 182 patients and on the previously unresolved 32 patients, targeting pathogenic single nucleotide variants, short insertions/deletions and copy number variations (CNVs). We confirmed 78 pathogenic variations in 78 patients. Pathogenic variations in ARID1B, SMARCB1, SMARCA4, ARID1A, SOX11, SMARCE1, and PHF6 were identified in 48, 8, 7, 6, 4, 1, and 1 patients, respectively. In addition, we found three CNVs including SMARCA2. Of particular note, we found a partial deletion of SMARCB1 in one CSS patient and we thoroughly investigated the resulting abnormal transcripts.
Matched MeSH terms: Hand Deformities, Congenital/genetics*