Neutral endopeptidase-resistant C-type natriuretic peptide variant represents a new therapeutic approach for treatment of fibroblast growth factor receptor 3-related dwarfism.
Journal of Pharmacology and Experimental Therap... 353(1):132 (2015)
Achondroplasia (ACH), the most common form of human dwarfism, is caused by an activating autosomal dominant mutation in the fibroblast growth factor receptor-3 gene. Genetic overexpression of C-type natriuretic peptide (CNP), a positive regulator of endochondral bone growth, prevents dwarfism in...
FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.
Molecular Genetics & Genomic Medicine 2(6):497 (2014)
Fibroblast growth factor receptor 3 (FGFR3) is the only gene known to cause achondroplasia (ACH), hypochondroplasia (HCH), and thanatophoric dysplasia types I and II (TD I and TD II). A second, as yet unidentified, gene also causes HCH. In this study, we used sequencing analysis to determine the...
Arterial tortuosity in patients with Filamin A- associated vascular aneurysms.
American Journal of Medical Genetics Part A 164A(11):2961 (2014)
Echocardiographic findings in patients with spontaneous CSF leak.
Journal of Neurology 261(10):1957 (2014)
The presence of cardiovascular abnormalities in patients with spontaneous cerebrospinal fluid (CSF) leaks are not well-documented in the literature, as cardiovascular evaluation is not generally pursued if a patient does not exhibit additional clinical features suggesting an inherited connective...
Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia: review of an 11-year surgical case series.
Journal of Neurosurgery Pediatrics 14(3):238 (2014)
Achondroplasia may be associated with compression at the cervicomedullary junction. Determining which patients are at greatest risk for neurological complications of cervicomedullary compression can be difficult. In the current study the authors reviewed their records to determine the incidence ...
Patient-derived skeletal dysplasia induced pluripotent stem cells display abnormal chondrogenic marker expression and regulation by BMP2 and TGFβ1.
Stem Cells and Development 23(13):1464 (2014)
Skeletal dysplasias (SDs) are caused by abnormal chondrogenesis during cartilage growth plate differentiation. To study early stages of aberrant cartilage formation in vitro, we generated the first induced pluripotent stem cells (iPSCs) from fibroblasts of an SD patient with a lethal form of met...
Recurrent compartment syndrome in a patient with clinical features of a connective tissue disorder.
American Journal of Medical Genetics Part A 161A(6):1442 (2013)
Arterial complications are common in vascular type Ehlers-Danlos syndrome (EDS), accounting for 66% of first complications. Several cases in the literature have documented acute compartment syndrome (ACS) following vascular rupture in vascular type EDS. Other disorders of connective tissue have ...
Human long bone development in vivo: analysis of the distal femoral epimetaphysis on MR images of fetuses.
Radiology 267(2):570 (2013)
To investigate human long bone development in vivo by analyzing distal femoral epimetaphyseal structures and bone morphometrics on magnetic resonance (MR) images of fetuses.
An institutional review board approved this retrospective study, and informed consent was waived. Included were 272 MR ima...
Axial spondylometaphyseal dysplasia with retinitis pigmentosa--a clinical report and diagnostic clues.
Journal of Applied Genetics 54(2):231 (2013)
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.
European Journal of Human Genetics 21(5):494 (2013)
Mutations conferring loss of function at the FLNA (encoding filamin A) locus lead to X-linked periventricular nodular heterotopia (XL-PH), with seizures constituting the most common clinical manifestation of this disorder in female heterozygotes. Vascular dilatation (mainly the aorta), joint hyp...
Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective study.
European Journal of Human Genetics 21(4):386 (2013)
We aimed to assess the frequency of connective tissue abnormalities among patients with cerebrospinal fluid (CSF) leaks in a prospective study using a large cohort of patients. We enrolled a consecutive group of 50 patients, referred for consultation because of CSF leak. All patients have been c...
Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features.
European Journal of Human Genetics 21(2):233 (2013)
Ehlers-Danlos syndrome (EDS) type VIII (periodontitis type) is a distinct form of EDS characterized by periodontal disease leading to precocious dental loss and a spectrum of joint and skin manifestations. EDS type VIII is transmitted in an autosomal dominant pattern; however, the mutated gene h...
Visceroptosis of the bowel in the hypermobility type of Ehlers-Danlos syndrome: presentation of a rare manifestation and review of the literature.
European Journal of Medical Genetics 55(10):548 (2012)
Gastrointestinal complications are common in patients with Ehlers-Danlos syndrome, affecting up to 50% of individuals depending on the subtype. The spectrum of gastrointestinal manifestations is broad and ranges from life threatening spontaneous perforation of the visceral organs to a more benig...
Clubfeet and associated abnormalities on fetal magnetic resonance imaging.
Prenatal Diagnosis 32(9):822 (2012)
Clubfoot, or talipes equinovarus (TEV), is commonly diagnosed on prenatal ultrasound. This study sought to visualize TEV and associated abnormalities on fetal magnetic resonance imaging (MRI) compared with ultrasound.
This retrospective study included the MRI scans of 44 fetuses with TEV using p...
Filamin A mutation associated with normal reading skills and dyslexia in a family with periventricular heterotopia.
American Journal of Medical Genetics Part A 158A(8):1897 (2012)
Periventricular heterotopia (PH) is a disorder of neuronal migration during fetal development that is characterized by morphologically normal neurons being located in an anatomically abnormal position in the mature brain. PH is usually diagnosed in patients presenting with a seizure disorder, wh...
Ovarian cysts on prenatal MRI.
European Journal of Radiology 81(8):1937 (2012)
Ovarian cysts are the most frequently encountered intra-abdominal masses in females in utero. They may, at times, require perinatal intervention. Using magnetic resonance imaging (MRI) as an adjunct to ultrasonography (US) in prenatal diagnosis, we sought to demonstrate the ability to visualize ...
Male genital abnormalities in intrauterine growth restriction.
Prenatal Diagnosis 32(5):427 (2012)
Previous studies have shown a correlation between hypospadias and intrauterine growth restriction (IUGR), suggesting an association between placental insufficiency and abnormal genital development. This study sought to analyze the association of IUGR and genital abnormalities apparent on fetal m...
Exome sequencing identifies PDE4D mutations in acrodysostosis.
The American Journal of Human Genetics 90(4):746 (2012)
Acrodysostosis is a dominantly-inherited, multisystem disorder characterized by skeletal, endocrine, and neurological abnormalities. To identify the molecular basis of acrodysostosis, we performed exome sequencing on five genetically independent cases. Three different missense mutations in PDE4D...
Radiological aspects of prenatal-onset cortical hyperostosis [Caffey Dysplasia].
European Journal of Radiology 81(4):e565 (2012)
Cortical hyperostosis is a bone disease that may, at times, occur with a prenatal onset. This study seeks to present the characteristic patterns of prenatal-onset cortical hyperostosis (PCH) with regard to the radiographic features, and tries to ascertain whether PCH is a separate entity from in...
Early-onset osteoarthritis in Ehlers-Danlos syndrome type VIII.
American Journal of Medical Genetics Part A 158A(4):938 (2012)