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CLOVES syndrome is closely linked to other overgrowth disorders like proteus syndrome, Klippel–Trénaunay syndrome, Sturge–Weber syndrome, and hemihypertrophy, to name a few. 'CLOVES' is an acronym for: [2] [3] C is for congenital. L is for lipomatous, which means pertaining to or resembling a benign tumor made up of mature fat cells. Most ...
Phocomelia is a congenital condition that involves malformations of human arms and legs which result in a flipper-like appendage. [1] [2] A prominent cause of phocomelia is the mother being prescribed the use of the drug thalidomide during pregnancy; however, the causes of most cases are to be determined.
The following is the list of all cases of acro-oto-radial syndrome reported in medical literature: 1991: Paes-Alves et al. describes 3 affected members of 2 consanguineous sibships from the same large family in Bahia, Brazil with the symptoms mentioned above. They propose this case to be part of a novel autosomal recessive malformation syndrome ...
[10] [11] Other features that have been identified in patients with ischiopatellar dysplasia include foot anomalies, [12] specifically flat feet (pes planus), syndactylism of the toes, [13] short fourth and fifth toes, and a large gap between the first and second toes, [14] [15] femur anomalies, [16] cleft palate, [17] and craniofacial ...
Mandy Sellars (born 20 February 1975 in Lancashire, United Kingdom) is a British woman with a rare genetic mutation that has resulted in extraordinary growth in both of her legs. In 2006, some doctors diagnosed Sellars as having Proteus syndrome , a very rare condition thought to affect only 120 people worldwide, [ 1 ] but more recent diagnoses ...
Idiopathic orbital inflammatory (IOI) disease refers to a marginated mass-like enhancing soft tissue involving any area of the orbit.It is the most common painful orbital mass in the adult population, and is associated with proptosis, cranial nerve palsy (Tolosa–Hunt syndrome), uveitis, and retinal detachment.
The disease was first described by Maroteaux and Lamy in 1962 [4] [5] at which time it was defined by the following characteristics: dwarfism; osteopetrosis; partial agenesis of the terminal digits of the hands and feet; cranial anomalies, such as persistence of fontanelles and failure of closure of cranial sutures; frontal and occipital bossing; and hypoplasia of the angle of the mandible. [6]
Superior mesenteric artery syndrome; Superior orbital fissure syndrome; Superior vena cava syndrome; Supernumerary nipples–uropathies–Becker's nevus syndrome; Supernumerary phantom limb; Survivor syndrome; Susac's syndrome; Sweet's syndrome; Swyer–James syndrome; Syndrome of inappropriate antidiuretic hormone secretion; Syndrome of ...