Dental management in a patient with Crisponi/cold-induced sweating syndrome type 1: a case report
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 17, 2022 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata
We describe a female infant with X-linked chondrodysplasia punctata (CDPX1) as a result of maternal isodisomy of the X chromosome. Targeted Sanger sequencing and targeted next-generation sequencing of ARSL were used to test for the familial variant. This patient was homozygous for ARSL NM_000047.2: c.1227_1228delinsAT p.(Ser410Cys) familial variant, consistent with a diagnosis of CDPX1. Uniparental disomy is a type of chromosomal variation. Although not necessarily pathogenic, it can cause imprinting disorders and X-linked recessive disorders in females, and be a cause of autosomal recessive conditions when only one parent...
Source: Clinical Dysmorphology - June 17, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Clinical and genetic studies of thiamine metabolism dysfunction syndrome-4: case series and review of the literature
We report three patients from two different families with normal development, episodic encephalopathy, gait disorder, progressive chronic polyneuropathy characterized by motor difficulties, distal weakness, and hoarseness (dysphonia). We identified a homozygous missense c.576G>C, p.(Gln192His) variant in the SLC25A19 gene in both families by whole-exome sequencing. Following genetic diagnosis, thiamine replacement therapy was started, and improvement was observed in all affected patients. We highlight the associated phenotypes of an SCL25A19 mutation leading to clinical features of THMD-4. (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 17, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Clinical implications of mosaicism: a 10-year retrospective review of 83 families in a university-affiliated genetics clinic
Mosaicism refers to the coexistence of two or more genetically distinct cell populations in an individual from a single fertilized egg. We performed a retrospective analysis of all patients diagnosed with mosaic disorders between 2010 and 2021 in a university-affiliated genetics clinic, which attends to territory-wide genetic consultations. All patients with confirmed mosaic diagnoses through reproductive (n = 6), prenatal (n = 24), and postnatal (n = 53) testing were examined. We observed that mosaic 45, X (n = 31) and PIK3CA-related overgrowth spectrum (n = 16) disorders were among the most prevalent diagnoses in the cli...
Source: Clinical Dysmorphology - June 17, 2022 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
“Laurin-Sandrow Syndrome – a review of the literature and classification system”
Conclusion
Even though it has an extremely low incidence, a thorough understanding of the syndrome enables the surgeon to choose the appropriate treatment with the ultimate goal to improve the patient’s life quality. (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 17, 2022 Category: Genetics & Stem Cells Tags: Review article Source Type: research
Novel antenatal presentation of cystic hygroma in a case of Koolen–de Vries syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 10, 2022 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
X-linked Ohdo syndrome due to a novel MED12 variant detected by Rapid Exome Sequencing
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 10, 2022 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
A novel genomic variant in two siblings with very low-density lipoprotein receptor-associated cerebellar hypoplasia
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 10, 2022 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Silver–Russell syndrome caused by trisomy 11p15.5 due to a derivative X chromosome from a de novo t(X;11) in a Mexican female patient
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 10, 2022 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Angelman syndrome with a 15q11q13 deletion in a mother and daughter
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 10, 2022 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Autosomal recessive EXT2 syndrome - extending the phenotypic spectrum of an emerging condition, a further case?
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 10, 2022 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
A further case of Skraban-Deardorff syndrome and review of the literature
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 10, 2022 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Two new cases of nonepileptic neurodevelopmental disorder due to GRIN2B variants and detailed clinical description of the behavioral phenotype
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 10, 2022 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
A novel variant in WNT5A responsible for Robinow syndrome in a male fetus with limb shortening and agenesis of the penis
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 10, 2022 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 10, 2022 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
