marfanoid การใช้

Marfan lipodystrophy syndrome ( MFLS ) has sometimes been confused with Wiedemann Rautenstrauch syndrome, since the Marfanoid features are progressive and sometimes incomplete.
The diagnosis of marfanoid habitus in LFS is often delayed because many of the physical features and characteristics associated with it are usually not evident until adolescence.
In LFS, specific features identified as marfanoid include : a long, narrow face; with joint halluces ( the big toes ) and long second toes.
Although LFS is usually suspected when intellectual disability and marfanoid habitus are observed together in a patient, the diagnosis of LFS can be confirmed by the presence of the p . N1007S missense mutation in the " MED12 " gene.
MEN2A associates medullary thyroid carcinoma with pheochromocytoma in about 20 50 % of cases and with primary hyperparathyroidism in 5 20 % of cases . MEN2B associates medullary thyroid carcinoma with pheochromocytoma in 50 % of cases, with marfanoid habitus and with mucosal and digestive neurofibromatosis.