Stüve–Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway
We present an Afro-Caribbean family with two siblings diagnosed with Stüve–Wiedemann syndrome. The underlying loss-of-function mutation in the leukemia inhibitory factor receptor gene is thought to impair proper functioning of the JAK/STAT 3 pathway. As this affects normal functioning of T-helper cells, these patients are prone to infections with uncommon pathogens as illustrated by this case. (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 11, 2019 Category: Genetics & Stem Cells Tags: ORIGINAL ARTICLES Source Type: research
Chromosome 12q24.31 microdeletion and congenital heart disease: a case report and review of the literature
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 22, 2018 Category: Genetics & Stem Cells Tags: LETTER TO THE EDITOR Source Type: research
Congenital lateral abdominal wall defect in two Congolese children
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 22, 2018 Category: Genetics & Stem Cells Tags: SHORT CASE REPORTS Source Type: research
Ophthalmic manifestations associated with RARB mutations
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 22, 2018 Category: Genetics & Stem Cells Tags: SHORT CASE REPORTS Source Type: research
Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 22, 2018 Category: Genetics & Stem Cells Tags: SHORT CASE REPORTS Source Type: research
The first report of fibular agenesis, tibial campomelia, and oligosyndactyly syndrome with hydrocephaly
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 22, 2018 Category: Genetics & Stem Cells Tags: SHORT CASE REPORTS Source Type: research
Intrafamilial variability of clinical features in distal arthrogryposis type 2B
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 22, 2018 Category: Genetics & Stem Cells Tags: SHORT CASE REPORTS Source Type: research
Type VI syndactyly with skeletal dysplasia: a new syndrome?
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 22, 2018 Category: Genetics & Stem Cells Tags: SHORT CASE REPORTS Source Type: research
The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 22, 2018 Category: Genetics & Stem Cells Tags: SHORT CASE REPORTS Source Type: research
A mitochondrial neurogastrointestinal encephalomyopathy with intestinal pseudo-obstruction resulted from a novel splice site mutation
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive disorder characterized by gastrointestinal dysmotility, cachexia, ptosis, peripheral neuropathy and leukoencephalopathy. The diagnosis is often not made until 5–10 years after the onset of symptoms. MNGIE is caused by mutations in thymidine phosphorylase gene TYMP. Here, we present a 19-year-old boy with MNGIE who had a chronic intestinal pseudo-obstruction, and we describe his family history. Genetic analysis revealed a novel homozygous c.765+1G>C intronic mutation which is expected to disrupt splicing of TYMP in the patient. Family scr...
Source: Clinical Dysmorphology - December 22, 2018 Category: Genetics & Stem Cells Tags: ORIGINAL ARTICLES Source Type: research
Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV
Glycogen storage disease IV (GSD IV), caused by a defect in GBE1, is a clinically heterogeneous disorder. A classical hepatic form and a neuromuscular form have been described. The severe neuromuscular form presents as a fetal akinesia deformation sequence or a congenital subtype. We ascertained three unrelated families with fetuses/neonates who presented with fetal akinesia deformation sequence to our clinic for genetic counseling. We performed a detailed clinical evaluation, exome sequencing, and histopathology examination of two fetuses and two neonates from three unrelated families presenting with these perinatally let...
Source: Clinical Dysmorphology - December 22, 2018 Category: Genetics & Stem Cells Tags: ORIGINAL ARTICLES Source Type: research
Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients
We report the genetic and clinical findings in the largest cohort with ML-IIIγ so far: 18 affected individuals from 12 families including 12 patients from India, five from Turkey, and one from the USA. With consanguinity confirmed in eight of 12 families, molecular characterization showed that all affected patients had homozygous pathogenic GNPTG genotypes, underscoring the rarity of the disorder. Unlike ML-IIIαβ, which present with a broader spectrum of severity, the ML-III γ phenotype is milder, with onset in early school age, but nonetheless thus far considered phenotypically not differentiable from ML-IIIαβ. Eval...
Source: Clinical Dysmorphology - December 22, 2018 Category: Genetics & Stem Cells Tags: ORIGINAL ARTICLES Source Type: research
UBE2A-related X-linked intellectual disability
is characterized by a distinctive facial phenotype (dense eyebrows and eyelashes, synophrys, hypertelorism, upslanted palpebral fissures, wide mouth, and thin lips), generalized hirsutism, hypoplastic genitalia, short stature, hypotonia, seizures, and severe intellectual disability. Five affected males in two families are described here and compared with the previously reported 17 males in eight families. The new cases are notable for the absence of nail dystrophy, previously considered a defining manifestation, and for the presence of hypogammaglobulinemia and adult-onset ataxia. (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 22, 2018 Category: Genetics & Stem Cells Tags: ORIGINAL ARTICLES Source Type: research
A case report of a suspected dual diagnosis: 22q11.2 deletion syndrome and X-linked chondrodysplasia punctata
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 7, 2018 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Mutation of PACS1: the milder end of the spectrum
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 7, 2018 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
