Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 6, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review
Autosomal dominant cutis laxa (ADCL, OMIM #123700) is a rare connective tissue disorder characterized by loose, redundant skin folds that may be apparent form birth or appear later in life. Most severely affected areas are the neck, axillar regions, trunk, and groin. Typically, patients present with characteristic facial features including a premature aged appearance, long philtrum, a high forehead, large ears, and a beaked nose. Cardiovascular and pulmonary complications include bicuspid aortic valves, aortic root dilatation, and emphysema. Sporadically, these complications have been documented to cause premature death. S...
Source: Clinical Dysmorphology - June 6, 2017 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Novel OFD1 frameshift mutation in a Chinese boy with Joubert syndrome: a case report and literature review
In this study, we identified a novel OFD1 mutation of c.2843_2844 delAA (p.Lys948ArgfsX) in a 3-month-old boy with a ‘molar tooth sign’ and clinical features of JBTS using targeted exome next-generation sequencing. The de-novo OFD1 mutation in exon 21 leads to a frameshift mutation generating a prematurely truncated protein and is predicted to partly reduce the function of the OFD1 protein. Our study expands the genotype–phenotype spectrum in JBTS and will have applications in prenatal and early diagnosis of the disorder. This is the first report of the OFD1 mutation causing JBTS in a Chinese population. (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 6, 2017 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Jejunal atresia and unilateral postaxial polydactyly: second report of a rare association
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 6, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
The TWIST2 mutation causes Setleis syndrome: a rare clinical case report
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 6, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Familial Kagami–Ogata syndrome in Chinese
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 6, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
The Finnish founder mutation c.70 A>G in RMRP causes cartilage-hair hypoplasia in a Pakistani family
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 6, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancer
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 6, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Enamel–renal syndrome with congenital heart defects and asthma: a rare association in a Moroccan child
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 6, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
A new finding of a tethered cord in a patient with Okamoto syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 6, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Rare XXY/XX mosaicism in a phenotypic male presenting as cystic hygroma in the first trimester
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 6, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
RAF1-associated Noonan syndrome presenting antenatally with an abnormality of skull shape, subdural haematoma and associated with novel cerebral malformations
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 6, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
A novel mutation of orthodenticle homeobox 2 contributing to a case of otocephaly initially diagnosed by prenatal ultrasound in the first trimester
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 6, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
De novoSETD5 nonsense mutation associated with diaphragmatic hernia and severe cerebral cortical dysplasia
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 6, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Extreme phenotypes of Loeys Dietz syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 6, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
