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arachnodactyly/nutukimas

Nuoroda įrašoma į mainų sritį
StraipsniaiKlinikiniai tyrimaiPatentai
4 rezultatus

Surgical treatment for kyphoscoliosis in Cohen syndrome.

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Prisijungti Registracija
Cohen syndrome is a very rare disease. Complication by spinal deformity has been reported, but management and surgery for spinal deformity in Cohen syndrome has not been previously described. The objective of this study was to examine the outcome of surgical treatment for kyphoscoliosis of Cohen

Prader-Willi syndrome: clinical and molecular cytogenetic investigations.

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Prisijungti Registracija
Prader-Willi syndrome is characterized by hypotonia and feeding difficulties in the neonatal period, with the childhood development of hyperphagia leading to obesity, developmental delay, hypogonadism, short stature and small hands and feet. Correct diagnosis of Prader-Willi syndrome is important

Interstitial deletions at 6q14.1q15 associated with developmental delay and a marfanoid phenotype.

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Prisijungti Registracija
There are a number of reports of interstitial deletions of the long arm of chromosome 6 that have developmental delay and obesity suggesting that this is a distinct phenotype almost like Prader-Willi syndrome. Here we report a patient with a similar deletion but a strikingly different phenotype, one

Minor physical anomalies in neurodevelopmental disorders: a twin study.

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Prisijungti Registracija
UNASSIGNED Minor physical anomalies (MPAs) are subtle anatomical deviations in one's appearance and may suggest altered embryogenesis. MPAs have been shown to be more common in neurodevelopmental disorders (NDDs) compared with typical development. Still, further studies are needed on MPAs in NDDs,
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