Developmental Malformation (developmental + malformation)

Distribution by Scientific Domains

Selected Abstracts

Clinical etiological classification of scoliosis: report of 1289 cases

Yong Qiu MD
Objective:, With the development of diagnostic techniques and in-depth understanding of lateral curvature of the spine (scoliosis), it is possible to differentiate idiopathic scoliosis from other forms with various known etiologies. The present study was to analyze data collected at the authors' center according to the current etiological spectrum and classification of scoliosis. Methods:, One thousand, two hundred and eighty-nine consecutive patients with different forms of structural scoliosis were reviewed. The average age at first visit was 18 years, ranging from 4 months to 79 years. Corrective surgery was performed on patients aged from 9 to 28 years; their clinical data were retrieved for independent statistical analyses, and further compared with those obtained from the whole group. Results:, The prevalence of non-idiopathic scoliosis was 25.3% in the whole series, but it increased to 34% in the surgical group aged from 9 to 28 years. Thirty-nine percent of patients with congenital scoliosis presented at least one developmental spinal cord malformation. Conclusion:, The current study has shown that the etiological distribution of scoliosis has changed a lot from what was true decades ago. Developmental malformation related to scoliosis is one of the risk factors for neurological complications during corrective surgery, so it is important to make an accurate diagnosis and take appropriate prophylactic measures to avoid relative neurological complications. [source]

The Van der Woude syndrome: a case report and review of the literature

J Dissemond
ABSTRACT The Van der Woude syndrome is a rare autosomal dominant developmental malformation usually associated with bilateral lower lip pits. These congenital lip pits appear clinically as a malformation in the vermilion border of the lip, with or without excretion. As a genetic defect has been identified as a microdeletion of chromosome bands 1q32,q41, genetic counselling of patients may be considered. A nonsense mutation in the interferon regulatory factor-6 (IRF-6) is discussed as a pathogenic relevant factor. Therapeutic intervention is generally not necessary, although surgical excision is especially indicated in patients with recurrent inflammation. Physicians should be aware of the Van der Woude syndrome because it has been reported to be associated with a variety of malformations or other congenital disorders. [source]

Persistent hyperplastic primary vitreous: congenital malformation of the eye

Barkur S Shastry PhD
Abstract Persistent hyperplastic primary vitreous (PHPV), also known as persistent fetal vasculature, is a rare congenital developmental malformation of the eye, caused by the failure of regression of the primary vitreous. It is divided into anterior and posterior types and is characterized by the presence of a vascular membrane located behind the lens. The condition can be of an isolated type or can occur with other ocular disorders. Most cases of PHPV are sporadic, but it can be inherited as an autosomal dominant or recessive trait. Inherited PHPV also occurs in several breeds of dogs and cats. In a limited number of cases, Norrie disease and FZD4 genes are found to be mutated in unilateral and bilateral PHPV. These genes when mutated also cause Norrie disease pseudoglioma and familial exudative vitreoretinopathy that share some of the clinical features with PHPV. Mice lacking arf and p53 tumour suppressor genes as well as Norrie disease pseudoglioma and LRP5 genes suggest that these genes are needed for hyaloid vascular regression. These experiments also indicate that abnormalities in normal apoptosis and defects in Wnt signalling pathway may be responsible for the pathogenesis of PHPV. Identification of other candidate genes in the future may provide a better understanding of the pathogenesis of the condition that may lead to a better therapeutic approach and better management. [source]

Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome

Georg C. Schwabe
Abstract Robinow syndrome (RS) is a human dwarfism syndrome characterized by mesomelic limb shortening, vertebral and craniofacial malformations and small external genitals. We have analyzed Ror2 -/- mice as a model for the developmental pathology of RS. Our results demonstrate that vertebral malformations in Ror2 -/- mice are due to reductions in the presomitic mesoderm and defects in somitogenesis. Mesomelic limb shortening in Ror2 -/- mice is a consequence of perturbed chondrocyte differentiation. Moreover, we show that the craniofacial phenotype is caused by a midline outgrowth defect. Ror2 expression in the genital tubercle and its reduced size in Ror2 -/- mice makes it likely that Ror2 is involved in genital development. In conclusion, our findings suggest that Ror2 is essential at multiple sites during development. The Ror2 -/- mouse provides a suitable model that may help to explain many of the underlying developmental malformations in individuals with Robinow syndrome. Developmental Dynamics 229:400,410, 2004, 2004 Wiley-Liss, Inc. [source]

Physiological functions of imprinted genes

Benjamin Tycko
Genomic imprinting in gametogenesis marks a subset of mammalian genes for parent-of-origin-dependent monoallelic expression in the offspring. Embryological and classical genetic experiments in mice that uncovered the existence of genomic imprinting nearly two decades ago produced abnormalities of growth or behavior, without severe developmental malformations. Since then, the identification and manipulation of individual imprinted genes has continued to suggest that the diverse products of these genes are largely devoted to controlling pre- and post-natal growth, as well as brain function and behavior. Here, we review this evidence, and link our discussion to a website ( containing a comprehensive database of imprinted genes. Ultimately, these data will answer the long-debated question of whether there is a coherent biological rationale for imprinting. 2002 Wiley-Liss, Inc. [source]