Background:Prenatal ultrasound plays an important role in the early and accurate evaluation of the congenital skeletal and non-skeletal abnormalities of the fetus and is effective in predicting pregnancy outcomes. Congenital femoral deficiency (CFD) is a rare complicated and non-hereditary anomaly that includes the hypoplasia of a portion of the femoral bone with shortening the lower limb. Cas...

Background. Melnick-Needles Syndrome is rare congenital hereditary skeletal dysplasia caused by mutations in the FLNA gene, which codifies the protein filamin A. This condition leads to serious skeletal abnormalities, including the stomatognathic region. Case Presentation. This paper describes the case of a 13-year-old girl diagnosed with Melnick-Needles Syndrome presenting with different forms...

Volume 5 • Issue 1 • 1000e103 J Clin Med Genomics, an open access journal ISSN: 2472-128X The skeletal dysplasias (SD) are the most common of the fetal genetic skeletal disorders. Classification of these conditions is based on clinical, radiological and pathological criteria [1]. The identification of an increasing number of genes involved in these disorders led to consider a molecular classifi...

INTRODUCTION The technique of selective embolization has been applied for years in the treatment of vascular anomalies, severe hemorrhage, and for benign and malignant tumors. Some hypervascular skeletal metastases are prone to massive hemorrhage. CASE PRESENTATION We describe the cases of two patients with thyroid carcinoma presenting with neuromuscular symptoms due to large skeletal metasta...

Orthodontists correct dental malocclusion, but major facial skeleton deformations (skeletal malocclusion) are often subject to surgical correction. Several speech pathologies associated with both of the occlusal anomalies mentioned above. The majority articulation disorders and primary functions cannot be improved without skeletal This study aimed investigate outcome multimodal logopaedics trea...

Observations of skeletal malformations in fish the wild are poorly documented and need to be investigated. Here we report occurrence body shortening specimens Plagioscion squamosissimus collected Volta Grande do Xingu, middle Xingu River region (Pará, Brazil), during a 12-month monitoring program (2021–2022). We observed morphological anomalies nine individuals, which two underwent radiographic...

BACKGROUND Platelet-derived growth factor receptor alpha (PDGFRα) is a cell-surface receptor tyrosine kinase for platelet-derived growth factors. Correct timing and level of Pdgfra expression is crucial for embryo development, and deletion of Pdgfra caused developmental defects of multiple endoderm and mesoderm derived structures, resulting in a complex phenotypes including orofacial cleft, spi...

OBJECTIVE The aim of this study is to understand the diagnostic utility of comparative genomic hybridization (CGH)-based microarrays for pregnancies with abnormal ultrasound findings. METHODS We performed a retrospective analysis of 2858 pregnancies with abnormal ultrasounds and normal karyotypes (when performed) tested in our laboratory using CGH microarrays targeted to known chromosomal syn...

fanconi syndrome was first described in 1927 by g.fanconi. fanconi syndrome with congenital aplastic anemia is a hereditary disorder in which peripheral blood pancytopenia and bone marrow hypoplasiais often associated with multiple somatic congenital malformations such as microcephaly, skeletal anomalies (absence or hypoplasia of radial or thumb or both of them), brown hyperpigmentation of the ...

BACKGROUND Neurofibromatosis type 1 (NF1) is a dominantly inherited Rasopathy caused by mutations in the NF1 gene on chromosome 17. NF1 has been connected to congenital anomalies, e.g., in the skeletal and cardiovascular systems, but the overall incidence of anomalies is unknown. In this retrospective register-based total population study conducted in Finland, the congenital anomalies in NF1 we...