A rare mutation in the EPG5 gene causes Vici syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 7, 2018 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
A large interstitial 11q deletion with isolated mild intellectual disability: review of the literature for genotype–phenotype correlation
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 7, 2018 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Case report of two siblings with a novel homozygous mutation in COL7A1 leads to recessive dystrophic epidermolysis bullosa: which type?
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 7, 2018 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Robinow syndrome: a diagnosis at the fingertips
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 7, 2018 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Extending the phenotype and an ECEL1 gene mutation in distal arthrogryposis type 5D
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 7, 2018 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Facial profile and additional features in fetuses with trisomy 21
We present the facial photographs of six fetuses with genetically confirmed trisomy 21. These photographs will serve as a diagnostic aid for trisomy 21 in perinatal dysmorphology. We noted punctate calcifications in two fetuses with trisomy 21. (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 7, 2018 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
A case of diencephalic syndrome presenting with isolated lipodystrophy
This report also highlights the importance of considering diencephalic syndrome in cases such as this. (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 7, 2018 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Familial impairment of vocal cord mobility in childhood with clubfoot
We report on a family with three siblings, male and female, affected by congenital bilateral limitation of vocal cord abduction, with the additional finding of clubfeet in two. The paternal family history suggests an autosomal dominant inheritance. The siblings and father also have mild craniofacial features, which may be an expression of variability or may be unrelated. The association between congenital vocal cord paralysis and clubfeet has been reported with additional major features or in the context of Charcot-Marie-Tooth disease. However, the two in isolation have only been reported in one other family previously. Ge...
Source: Clinical Dysmorphology - September 7, 2018 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
SHANK3 variant as a cause of nonsyndromal autism in an 11-year-old boy and a review of published literature
We present a 10-year-old patient with a pathogenic de novo heterozygous c.1231delC, p.Arg411Val frameshift variant in SHANK3. He presented with severe autism, attention deficit hyperactivity disorder and pathological demand avoidance, on a background of developmental impairment and language regression. The number of genes associated with autism is ever increasing. It is a heterogeneous group of disorders with no single gene conferring pathogenesis in the majority of cases. Genetic abnormalities can be detected in ~15% of ASD and these range from copy number variants in 16p11.2 and 15q13.2q13.3 to several well-known genetic...
Source: Clinical Dysmorphology - September 7, 2018 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
A novel FBN2 mutation in a Turkish case with congenital contractural arachnodactyly
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 5, 2018 Category: Genetics & Stem Cells Tags: Letter to the Editor Source Type: research
Complex cranio-vertebral malformation: disruption sequence or iniencephaly?
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 5, 2018 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
A case with isochromosome 18p and 2q13 deletion including the BUB1 gene
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 5, 2018 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
De-novo interstitial 2.33 Mb deletion in 8q24.3: new insights on a very rare partial monosomy syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 5, 2018 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
HHID syndrome with plantar fat pads caused by a de novo ARID1B mutation
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 5, 2018 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
A rare symptom of a very rare disease: a case report of a oculodentodigital dysplasia with lymphedema
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 5, 2018 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
