PubMed · 13591282
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H J WALLACE. 1958. Ectodermal defect with skeletal abnormalities.. https://pubmed.ncbi.nlm.nih.gov/13591282/
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BACKGROUND: The metatropic dysplasia group includes fibrochondrogenesis, Schneckenbecken dysplasia and metatropic dysplasia (various forms). The overlapping features of this group with other dysplasias may cause diagnostic confusion, particularly in perinatal lethal cases. OBJECTIVE: To attempt to classify the radiological findings of the presented eight sporadic cases based on a broad review of the perinatally lethal metatropic group of conditions and to discuss some overlapping features in the light of current knowledge. RESULTS: The first four cases are of recognised conditions, namely lethal metatropic dysplasia (Type 2) or hyperchondrogenesis, lethal hyperplastic metatropic dysplasia (Type 1) and fibrochondrogenesis. The remaining four cases cannot be categorised accurately and are different from each other but with some features of the metatropic group of dysplasias. CONCLUSIONS: The dysplasias within the metatropic dysplasia group are phenotypically distinct from many forms of chondrodysplasia but the pathogenesis still remains poorly understood from the morphological and molecular perspectives. Chondro-osseous morphology might be helpful in all lethal cases especially in our last four cases.
Calcitriol, the active metabolite of Vitamin D (1,25(OH)2D3) has several major roles in the body: hormonal regulation of calcium and phosphate-homeostasis, regulation of parathormone synthesis and modulation of the immune and endocrine systems. Due to its antiproliferative effects it also plays a role in tumour development. The calcitriol can have these differential effects as it is modulating gene expression in the cell nucleus. The effects of vitamin D are mediated by the nuclear vitamin D receptor, which heterodimerizes with the retinoid X receptor and changes gene transcription. Until now 5 single nucleotide polymorphisms of the vitamin D receptor gene have been identified. This review summarizes the identified effects of vitamin D receptor polymorphisms on bone homeostasis, on the parathyroid function, on diversal tumours and on diabetes.
Marfan's Syndrome (MFS) is an autosomal dominant condition resulting in a generalised weakness of the supporting tissues of the body. In its classical form it is associated with abnormalities of the eye, the skeletal system and the cardiovascular system. The prevalence of classical Marfan's Syndrome is 4-6 per 100,000 people. It has significant implications for affected women who are contemplating pregnancy. A multidisciplinary approach involving the specialities of maternal fetal medicine, cardiology and clinical genetics is optimal for provision of care to women with Marfan's Syndrome.