Phenotypic delineation of a 12q21 deletion syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 10, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
16p13.11-p12.3 Microdeletion identified in a patient with sagittal craniosynostosis and developmental delay
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 10, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
GATAD2B-related intellectual disability due to parental mosaicism and review of literature
In this study, we report on an additional subject with GATAD2B-related intellectual disability identified through whole exome sequencing. The clinically unaffected father harboured the pathogenic variant in a mosaic state. We review the existing phenotypic and genotypic information for the individuals with this condition. GATAD2B-related intellectual disability is a rare condition with subtle yet recognizable clinical features. In this article, we highlight a consistent clinical profile of subjects with GATAD2B-related intellectual disability. (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 10, 2019 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis
We report the first UK family with Traboulsi syndrome associated with two novel ASPH variants. This condition, which has some phenotypic overlap with both Marfan syndrome and homocystinuria, is most likely under ascertained, and we further delineate the clinical features to aid its recognition. (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 10, 2019 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review
Kaufman oculocerebrofacial syndrome is a rare autosomal recessive disorder caused by biallelic variants in UBE3B. Kaufman oculocerebrofacial syndrome is characterized by a recognizable pattern of malformations including moderate to severe intellectual disability, growth deficiency, microcephaly and a distinctive facial gestalt. Common craniofacial features include short upslanting palpebral fissures, blepharophimosis or ptosis, ear anomalies, hearing loss, palate anomalies and stridor/laryngomalacia. The aim of this study was to describe the phenotypic features and the genotype of five new individuals from three unrelated ...
Source: Clinical Dysmorphology - September 10, 2019 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Expansion of phenotype of DDX3X syndrome: six new cases
In this study, we describe six female probands, from five unrelated families, with five novel heterozygous variants in DDX3X, and the identification of potential germline mosaicism. Consistent features between this cohort and previously described cases include developmental delay or intellectual disability, growth disturbance and movement disorder. Common facial dysmorphism within the cohort include short palpebral fissures, micrognathia, bulbous nasal tip, protruding ears, high arched palate, thin upper vermillion and smooth philtrum. Novel clinical features identified from this cohort include facial dysmorphisms, perinat...
Source: Clinical Dysmorphology - September 10, 2019 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Aortic and pulmonary artery dilatation in Cantu syndrome: expanding the phenotype
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - May 31, 2019 Category: Genetics & Stem Cells Tags: Letter to the Editor Source Type: research
Prenatal presentation in a patient with Baraitser-Winter cerebrofrontofacial syndrome and a novel ACTB variant
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - May 31, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Dual diagnosis causing severe phenotype in a patient with Angelman syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - May 31, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Unusual association of Mayer–Rokitansky–Küster–Hauser and Sotos syndromes: a case report
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - May 31, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Phenotypic description of two adult brothers presenting with mild form of Smith–Lemli–Opitz syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - May 31, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Further delineation of DDX3X syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - May 31, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Myhre syndrome: a report of six Chinese patients and literature review
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - May 31, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Tissue-specific mosaicism in a patient with Rubinstein–Taybi syndrome and CREBBP exon 1 duplication
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - May 31, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Rubinstein–Taybi syndrome 2 with cerebellar abnormality and neural tube defect
Rubinstein–Taybi syndrome (RSTS) is a rare dominant disorder with intellectual disability, postnatal growth deficiency, and multiple congenital anomalies. Approximately 50–70% of the patients have a mutation in the CREBBP gene (RSTS1) and 5–10% display an EP300 gene mutation (RSTS2). Craniospinal abnormalities such as microcranium, scoliosis, and lordosis are frequent findings in RSTS1, but malformations of the brain or spinal cord are seen only occasionally. Here, we report on a 3-year-old boy with facial abnormalities of RSTS, broad thumbs and halluces, developmental delay, autistic features, cerebellar underdevelo...
Source: Clinical Dysmorphology - May 31, 2019 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
