Diagnosis and Management of Marfan Syndrome by Anne H. Child

By Anne H. Child

This booklet has been written according to the various first-class questions posed by means of our sufferers and their care groups, questions which deserve the best-informed and recent solutions supplied through our specialists in all the many well-being parts plagued by Marfan syndrome. the purpose of this article is to supply a precis of the current day realizing of analysis, administration and top scientific and surgical procedure of babies, youngsters and adults with Marfan syndrome. The authors hide the lifelong difficulties from beginning to previous age, in every one affected process. 40 percentage of this knowledge is the results of new cautious learn in line with a well-defined longitudinally studied united kingdom sufferer population.​

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Example text

Acta Paediatr. 1999;88(1):98–101. 4 Infantile and Neonatal Marfan Syndrome 25 11. Pees C, Michel-Behnke I, Hagl M, Laccone F. Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations. Clin Genet. 2014;86(6):552–7. 1111/cge12314. Epub 2013 Dec 4. 12. Kielty CM, Phillips J, Child AH, et al. Fibrillin secretion and microfibril assembly by Marfan dermal fibroblasts. Matrix Biol. 1994;14:141–99. 13. Horn D, Robinson PN.

Early recognition of the correct diagnosis can aid medical and surgical management, and genetic counselling. Infantile Marfan Syndrome A review of infants diagnosed in the first 3 months of life indicates that they may be recognised by the following features in at least 2 of 3 major systems (eyes, heart, skeleton). Other systems may be involved such as the lungs [1] and the central nervous system [2, 3]. Typically, the baby will be long and thin with a long head and face (dolichocephaly), wise “old man” facial appearance with large deep-set eyes, large corneas and dislocated lenses, large soft ears, high arched palate, small chin, loose joints, arachnodactyly (long spidery fingers), contractures of fingers and large joints, flat feet and anterior chest deformity.

Early consultation with the ophthalmologists is essential to achieve good outcomes. Wakita et al. evaluated the ocular complications associated with Marfan syndrome and listed them in order of frequency of the incidence and their findings are as shown below [23]. 1. 6 %. 2. 4 %. 3. 2 %. B. H. Child Lens Dislocation Lends dislocation is the most common ocular abnormality in MFS, affecting 60–80 %. In the majority of cases it is present before 10 years of age. Ectopia lentis refers to a subluxated lens and may occur in Marfan syndrome.

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