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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]
Peeling skin syndrome (acral peeling skin syndrome, continual peeling skin syndrome, familial continual skin peeling, idiopathic deciduous skin, keratolysis exfoliativa congenita) Pfeiffer syndrome; Photosensitivity–ichthyosis–brittle sulfur-deficient hair–impaired intelligence–decreased fertility–short stature syndrome
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 ...
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Dolichocephaly can sometimes be a symptom of Sensenbrenner syndrome, Crouzon syndrome, Sotos syndrome, [2] CMFTD [3] and Marfan syndrome. However, it also occurs non-pathologically as a result of normal variation between human populations.