Mild presentation of the congenital variant Rett syndrome in a Pakistani male: expanding the phenotype of the forkhead box protein G1 spectrum
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 10, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 10, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Novel HOXA2 variant presenting with microtia and variable hearing impairment in four-generation pedigree
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 10, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Dual genetic diagnoses: neurofibromatosis type 1 and KBG syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 10, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Haploinsufficiency of AKT3 gene causing microcephaly and psychomotor delay in a patient with 1q43q44 microdeletion
Deletion of the 1q43q44 chromosomal region has been related to a clinical syndrome characterized by neurodevelopmental delay, intellectual disability, microcephaly, congenital abnormality of the corpus callosum, and epilepsy and dysmorphic features. A wide variability of the clinical features have been linked to the contiguous deleted genes and incomplete penetrance has been observed too. Here, we report a 4-years-old boy with microcephaly, neurodevelopmental delay, and cardiac atrial septal defect, who had a de-novo 117 Kb 1q43-q44 microdeletion. The deleted chromosomal region encompassed the two genes SDCCAG8 and AKT3....
Source: Clinical Dysmorphology - March 10, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Xq25 microduplication syndrome: a further contribution to its definition. A case report and review of the literature
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 10, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa
Dystrophic epidermolysis bullosa is a major form of epidermolysis bullosa and may be inherited as an autosomal dominant or recessive trait, with associated mutations in the COL7A1 gene. Here, we describe a consanguineous Pakistani family with four affected individuals suffering from recessive dystrophic epidermolysis bullosa. Exome sequencing of the proband’s DNA revealed a homozygous missense variant (c.8038G>A:p.Gly2680Ser) in COL7A1 which cosegregated with disease in the family. The emergence of this particular glycine substitution in patients from diverse ethnic backgrounds such as China, United Kingdom, Poland, Iran...
Source: Clinical Dysmorphology - March 10, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Congenital dermoid inclusion cyst over the anterior fontanel in Chinese children
This study reports nine Chinese cases (three females and six males) with CDIC over the anterior fontanel. The clinical manifestations and imaging were analyzed retrospectively. Surgical resection was undertaken in all cases. The diagnosis of CDIC over the anterior fontanel was confirmed by histological examination. The cysts were all noticed soon after birth and enlarged gradually. They were soft, nontender with a sessile base without inflammatory signs and breaking. Computed tomography (CT) and magnetic resonance imaging (MRI) revealed soft tissue mass over the anterior fontanel without intracranial extensions. The histop...
Source: Clinical Dysmorphology - March 10, 2020 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia
We report two affected brothers, born to orthodox Jewish parents, in whom we found a novel homozygous missense variant c.4910G>A; p.(Cys1637Tyr) in LRP4 situated in an EGF-like domain between the fourth beta-propeller and transmembrane domains. Both brothers have had recurrent ketotic hypoglycaemia which has not been associated previously. We present 3D computed tomographic imaging illustrating the limb abnormalities in detail. (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 10, 2020 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
A case report of trisomy 17 mosaicism: PMP22 gene duplication as a result of trisomy 17 associated with Charcot-Marie-Tooth disease
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - January 1, 2020 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
A neuromuscular disorder with homozygosity for PIEZO2 gene variants: an important differential diagnosis for kyphoscoliotic Ehlers-Danlos Syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 6, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
A case report of trisomy 17 mosaicism: PMP22: gene duplication as a result of trisomy 17 associated with Charcot-Marie-Tooth disease
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 6, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
A novel nonsense mutation in CHST3 in a Turkish patient with spondyloepiphyseal dysplasia, Omani type
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 6, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Pathologic fracture revealed a rare syndromic form of genetic lipodystrophy
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 6, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
A case of septo-optic dysplasia with hereditary hemorrhagic telangiectasia: a previously unrecognized combination of malformations
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 6, 2019 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
