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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.
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.
Lujan–Fryns syndrome (LFS) is an X-linked genetic disorder that causes mild to moderate intellectual disability and features described as Marfanoid habitus, referring to a group of physical characteristics similar to those found in Marfan syndrome. [4] [5] These features include a tall, thin stature and long, slender limbs. [5]
Unlike Marfan syndrome, the cardiovascular system and the lens of the eye are unaffected. [citation needed] Mucosal neuromas are the most consistent and distinctive feature, appearing in 100% of patients. [11] Usually there are numerous yellowish-white, sessile, painless nodules on the lips or tongue, with deeper lesions having normal coloration.
Bovine facies (or cow face) – craniofacial dysostosis or Crouzon syndrome; Marshall halls facies – hydrocephalus; Frog face – intranasal disease; Coarse facies – many inborn errors of metabolism; Adenoid facies – developmental facial traits caused by adenoid hypertrophy, nasal airway obstruction and mouthbreathing; really a form of ...
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 ...
This feature can occur on its own with no underlying health problems, or it can be associated with certain medical conditions, including Marfan syndrome, [1] Ehlers–Danlos syndromes, [2] Loeys–Dietz syndrome, and homocystinuria. [3]
Dural ectasia is common in Marfan syndrome, [3] occurring in 63–92% of people with the syndrome. [11] It may also occur in Ehlers-Danlos Syndrome , neurofibromatosis type I , [ 12 ] ankylosing spondylitis , [ 1 ] and is associated with spondylolisthesis , vertebral fractures, [ 13 ] scoliosis , tumors or trauma .