• MeSH
• kraniosynostózy * chirurgie   diagnóza   etiologie   klasifikace   MeSH
• lidé MeSH
• novorozenec MeSH
• prognóza MeSH
• Check Tag
• lidé MeSH
• novorozenec MeSH
• Publikační typ
• přehledy MeSH

• MeSH
• lidé MeSH
• mikrocefalie * diagnóza   etiologie   patofyziologie   patologie   MeSH
• novorozenec MeSH
• Check Tag
• lidé MeSH
• novorozenec MeSH
• Publikační typ
• přehledy MeSH

AIM: To utilize three-dimensional (3D) geometric morphometry for visualization of the level of facial asymmetry in patients with the oculo-auriculo-vertebral spectrum (OAVS). MATERIALS AND METHODS: Three-dimensional facial scans of 25 Czech patients with OAVS were processed. The patients were divided into subgroups according to Pruzansky classification. For 13 of them, second 3D facial scans were obtained. The 3D facial scans were processed using geometric morphometry. Soft tissue facial asymmetry in the sagittal plane and its changes in two time spots were visualized using colour-coded maps with a thermometre-like scale. RESULTS: Individual facial asymmetry was visualized in all patients as well as the mean facial asymmetry for every Pruzansky subgroup. The mean colour-coded maps of type I and type IIA subgroups showed no differences in facial asymmetry, more pronounced asymmetry in the middle and the lower facial third was found between type IIA and type IIB (maximum 1.5 mm) and between type IIB and type III (maximum 2 mm). The degree of intensity facial asymmetry in affected middle and lower facial thirds did not change distinctly during the two time spots in all subgroups. CONCLUSIONS: The 3D geometric morphometry in OAVS patients could be a useful tool for objective facial asymmetry assessment in patients with OAVS. The calculated colour-coded maps are illustrative and useful for clinical evaluation.

• MeSH
• asymetrie obličeje * diagnostické zobrazování   patologie   MeSH
• dítě MeSH
• Goldenharův syndrom * diagnostické zobrazování   patologie   MeSH
• kefalometrie metody   MeSH
• lidé MeSH
• mladiství MeSH
• obličej anatomie a histologie   diagnostické zobrazování   patologie   MeSH
• zobrazování trojrozměrné * metody   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Cluster analyzes of facial models of autistic patients aim to clarify whether it is possible to diagnose autism on the basis of facial features and further to stratify the autism spectrum disorder. We performed a cluster analysis of sets of 3D scans of ASD patients (116) and controls (157) using Euclidean and geodesic distances in order to recapitulate the published results on the Czech population. In the presented work, we show that the major factor determining the clustering structure and consequently also the correlation of resulting clusters with autism severity degree is body mass index corrected for age (BMIFA). After removing the BMIFA effect from the data in two independent ways, both the cluster structure and autism severity correlations disappeared. Despite the fact that the influence of body mass index (BMI) on facial dimensions was studied many times, this is the first time to our knowledge when BMI was incorporated into the faces clustering study and it thereby casts doubt on previous results. We also performed correlation analysis which showed that the only correction used in the existing clustering studies-dividing the facial distance by the average value within the face-is not eliminating correlation between facial distances and BMIFA within the facial cohort.

• MeSH
• dítě MeSH
• index tělesné hmotnosti * MeSH
• lidé MeSH
• mladiství MeSH
• obličej * diagnostické zobrazování   MeSH
• poruchy autistického spektra * diagnostické zobrazování   MeSH
• předškolní dítě MeSH
• shluková analýza MeSH
• zobrazování trojrozměrné * metody   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

BACKGROUND: Congenital myasthenic syndromes (CMSs) are characterized by hypotonia, episodic apnea, muscle weakness, ptosis and generalized fatigability. CMS type 20 (CMS20) is a rare disorder caused by variants in SLC5A7. In contrast to most other CMSs, CMS20 is also associated with neurodevelopmental disorders (NDDs). Only 19 patients from 14 families have been reported so far. METHODS: We studied a 12-year-old boy with symptoms manifested at six weeks of age. Later, he also showed speech delay, moderate intellectual disability and autism. Analysis of CMS genes known at the time of clinical diagnosis yielded no results. Trio exome sequencing (ES) was performed. RESULTS: ES revealed compound heterozygosity for two SLC5A7 variants, p.(Asn431Lys) and p.(Ile291Thr). While the first variant was absent from all databases, the second variant has already been described in one patient. In silico analysis of known pathogenic SLC5A7 variants showed that variants with a higher predicted deleteriousness may be associated with earlier onset and increased severity of neuromuscular manifestations. CONCLUSION: Our patient confirms that CMS20 can be associated with NDDs. The study illustrates the strength of ES in deciphering the genetic basis of rare diseases, contributes to characterization of CMS20 and suggests trends in genotype-phenotype correlation in CMS20.

• MeSH
• genetické asociační studie MeSH
• heterozygot MeSH
• kongenitální myastenické syndromy * genetika   diagnóza   MeSH
• lidé MeSH
• mentální retardace * komplikace   MeSH
• missense mutace MeSH
• symportéry * genetika   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• práce podpořená grantem MeSH

Zimmermann-Laband syndrome is a rare, heterogeneous disorder characterized by gingival hypertrophy or fibromatosis, aplastic/hypoplastic nails, hypoplasia of the distal phalanges, hypertrichosis, various degrees of intellectual disability, and distinctive facial features. Three genes are considered causative for ZLS: KCNH1, KCNN3, and ATP6V1B2. We report on a pair of female concordant monozygotic twins, both carrying a novel pathogenic variant in the KCNN3 gene, identified using exome sequencing. Only six ZLS patients with the KCNN3 pathogenic variant have been reported so far. The twins show facial dysmorphism, hypoplastic distal phalanges, aplasia or hypoplasia of nails, and hypertrichosis. During infancy, they showed mild developmental delays, mainly speech. They successfully completed secondary school education and are socio-economically independent. Gingival overgrowth is absent in both individuals. Our patients exhibited an unusually mild phenotype compared to published cases, which is an important diagnostic finding for proper genetic counseling for Zimmermann-Laband syndrome patients and their families.

• MeSH
• dvojčata monozygotní genetika   MeSH
• fenotyp MeSH
• fibromatóza dásní * diagnóza   genetika   MeSH
• hyperplazie MeSH
• hypertrichóza * genetika   MeSH
• kraniofaciální abnormality MeSH
• lidé MeSH
• malformované nehty vrozené   MeSH
• mnohočetné abnormality MeSH
• nízkovodivostní draslíkové kanály aktivované vápníkem genetika   MeSH
• vrozené deformity ruky MeSH
• Check Tag
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• práce podpořená grantem MeSH

Aim: The aim of the presented study was to establish whether we can find differences in facial soft tissues morphology in patients with cleft palate compared to normal population using 3D facial scan, and to present a non-invasive examination method of 3D morphometrics. Material and method: The sample of patients included 22 men and 26 women. The most frequent in the patients was cleft hard and soft palate (83%), followed by submucous cleft palate (15%), and cleft soft palate (2%). The age of patients was within the interval 8 years and 1 months and 13 years and 11 months. The sample was subdivided into three groups according to the age. Measurements were performed with optical scanner 3dMDface System. The shape of cleft patient’s face was compared with physiologically average face of the controls of the given age and sex with SD score. Deviations between the scans were visualized with colour score in each patient. Results: In most patients the extent of cleft defect correlates with the extent of morphological changes of facial soft tissues. The mean deviation comparing facial maps of patients with cleft palate and the control group is 1.5 (SD). Conclusion: The results suggest that changes in facial soft tissues in patients with cleft palate are expressed.

• MeSH
• anatomická značka MeSH
• dítě MeSH
• fotografie zubní metody   přístrojové vybavení   MeSH
• kefalometrie metody   přístrojové vybavení   MeSH
• lidé MeSH
• obličej * diagnostické zobrazování   patologie   MeSH
• rozštěp patra * diagnostické zobrazování   patologie   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• klinická studie MeSH

• MeSH
• lidé MeSH
• novorozenec MeSH
• rozštěp rtu chirurgie   diagnóza   terapie   MeSH
• výsledek terapie MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• Publikační typ
• kazuistiky MeSH

Pyknodysostóza je vzácné genetické onemocnění patřící ke sklerotizujícím kostním dysplaziím. Pyknodysostóza je způsobena ztrátovou mutací v genu pro katepsin K(CTSK), který hraje důležitou roli v odbourávání kostních proteinů, osteoklasty tak nemohou efektivně resorbovat organickou kostní matrix. Důsledkem nedostatku katepsinu K je porucha růstu, dysplazie lebečních a obličejových kostí a článků prstů, osteoskleróza a zvýšená kostní lomivost. Dědičnost je autosomálně recesivní. Prezentovaný pacient byl poslán na antropologii pro poruchu růstu a orofaciální abnormity. Antropometrické vyšetření prokázalo malý vzrůst se zkrácenými končetinami, úzký hrudník a ramena, relativní makrocefalii, opožděný uzávěr velké fontanely a hypoplazii dolní čelisti. Měl krátké distální články prstů a onychodystrofii. Radiologické vyšetření prokázalo difusní osteosklerózu skeletu a akroosteolýzu distálních článků prstů. Na základě těchto nálezů bylo vysloveno podezření na pyknodysostózu. Molekulárně genetické vyšetření pak tuto diagnózu potvrdilo. Terapie tohoto onemocnění je symptomatická a multidisciplinární, včetně neinvazivní dechové podpory pro spánkovou apnoe, ortopedické léčby zlomenin, dentomaxilární rekonstrukce atd. Prognóza je příznivá, onemocnění není progresivní. Znalosti klíčových znaků a časná radiologická diagnóza této vrozené vady umožní prevenci a léčbu obvyklých komplikací.

Pycnodysostosis is arare genetic disorder belonging to sclerosing skeletal dysplasias. Pycnodysostosis is caused by loss of function mutations in the cathepsin K(CTSK) gene which plays an important role in enzymatic digestion of the bone proteins, therefore osteoclasts cannot effectively break down the organic matrix of bone. Deficiency of cathepsin Kresults in dwarfism, dysplasia of the skull and facial bones and phalanges, osteosclerosis, and fragility. It is inherited in an autosomal recessive trait. The presented patient was referred to our department due to growth failure and orofacial abnormality. Anthropometric examination proved short stature with short limbs, narrow chest and shoulder, relative macrocephaly, delayed closure of the anterior fontanelle and mandibular hypoplasia. He has short tips of fingers and onychodystrophy. Radiological examination ascertained diffuse osteosclerosis of the skeleton and acro-osteolysis of the distal phalanges. On the basis of these findings the suspicion on Pycnodysostosis was pronounced. Molecular genetic testing proved this diagnosis. The therapy of this disease is symptomatic and multidisciplinary, including assisted non-invasive ventilation due to sleep apnoea, orthopaedic treatment of fractures, dento-maxillar reconstructions, etc. The prognosis is quite promising, the disease is not progressive. Knowledge of the key signs and early X-ray diagnosis of this inherited disorder will facilitate the prevention and treatment of common complications.