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Marfan syndrome is named after Antoine Marfan, [11] the French pediatrician who first described the condition in 1896 after noticing striking features in a five-year-old girl. [ 12 ] [ 77 ] The gene linked to the disease was first identified by Francesco Ramirez at the Mount Sinai Medical Center in New York City in 1991.
[24] [43] Marfan syndrome, Ehlers–Danlos syndrome, and autosomal dominant polycystic kidney disease are the three most common connective tissue disorders associated with sCSFLs. [24] Roughly 20% of patients with a sCSFL exhibit features of Marfan syndrome, including tall stature, hollowed chest ( pectus excavatum ), joint hypermobility and ...
Dennie–Marfan syndrome is a syndrome in which there is association of spastic paraplegia of the lower limbs and mental retardation in children with congenital syphilis. [1] Both sexes are affected, and the onset of the disease can be acute or insidious, with slow progression from weakness to quadriplegia .
Marfanoid–progeroid–lipodystrophy syndrome (MPL), also known as Marfan lipodystrophy syndrome (MFLS) or progeroid fibrillinopathy, is an extremely rare medical condition which manifests as a variety of symptoms including those usually associated with Marfan syndrome, an appearance resembling that seen in neonatal progeroid syndrome (NPS; also known as Wiedemann–Rautenstrauch syndrome ...
Antoine Bernard-Jean Marfan (French pronunciation: [ɑ̃twan bɛʁnaʁ ʒɑ̃ maʁfɑ̃]; June 23, 1858 – February 11, 1942) was a French paediatrician. He was born in Castelnaudary (département Aude , Languedoc-Roussillon ) to Antoine Prosper Marfan and Adélaïde Thuries. [ 1 ]
Marfanoid (or Marfanoid habitus) is a constellation of signs resembling those of Marfan syndrome, including long limbs, with an arm span that is at least 1.03 of the height of the individual, and a crowded oral maxilla, sometimes with a high arch in the palate, arachnodactyly, and hyperlaxity.
Mare reproductive loss syndrome; Marfan syndrome; Marfanoid–progeroid–lipodystrophy syndrome; Marie Antoinette syndrome; Marinesco–Sjögren syndrome; Maroteaux–Lamy syndrome; Marshall syndrome; Marshall–Smith syndrome; Marshall–White syndrome; MASA syndrome; Mast cell activation syndrome; Mauriac syndrome; Mayer–Rokitansky ...
Marfan syndrome This page was last edited on 7 December 2024, at 09:29 (UTC). Text is available under the Creative Commons Attribution-ShareAlike 4.0 License ...