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| ... a rare genetic disorder ... either dominant or ... recessive ... dominant form is due to a mutation in the LAR1 gene on chromosome 3q21.1 ... the autosomal recessive form is thought to result from mosaicism rather thana true recessive form ... resulting in an abnormal migration of connective tissue during fetal development ... Clinical presenation includes dislocation at joints especially elbows, hips, and knees, deformities of feet and hands resulting in shortened, cylindrical phalanges, and abnormal development of vertibrae ... prominent forehead, wide-spaced eyes, and flattened nasal bridge ... syndactyly, cleft palate, genital anomalies, and short stature are more frequent in the recessive form ... Treatment ... is symptomatic. Surgical intervention is required in many cases to correct dislocated joints and spinal abnormalities ... Patients with spinal abnormalities can suffer from numbness and/or paralysis ... Another major concern ... malformation of tracheal cartilage leading to respiratory distress and difficulty ... |
LARSEN SYNDROME, RECESSIVE
Johns Hopkins University, March 17, 2004
 [for Professionals mainly]
Larsen et al. (1950) called attention to a syndrome of multiple congenital dislocations and characteristic facies (prominent forehead, depressed nasal bridge, wide-spaced eyes). Clubfoot, bilateral dislocation of elbows, hips and knees (most characteristically, anterior dislocation of the tibia on the femur), and short metacarpals with cylindrical fingers lacking the usual tapering were the skeletal features of note. Cleft palate, hydrocephalus, and abnormalities of spinal segmentation were found in some ... Congenital dislocation of the knees with unilateral cataract and unilateral undescended testis was present in a newborn male ... One of the earliest reports may have been that of McFarland (1929). Latta et al. (1971) made a point of a juxtacalcaneal accessory bone which may be specific for this entity ... suggested that 'dish face' is less striking in the recessive form but that other anomalies such as syndactyly, cleft palate, genital anomalies and severe short stature are more frequent in the recessive form ... On the island of La Reunion, situated in the Indian Ocean off the east coast of Africa, Larsen syndrome is unusually frequent ... approximate incidence of 1 per 1,500 births as compared with the approximate frequency in France of 1 per 100,000 births ...
LARSEN SYNDROME, AUTOSOMAL DOMINANT
Johns Hopkins University, March 2, 2007
[for Professionals mainly]
Gene Map Locus: 3p21.1-p14.1
Harris and Cullen (1971) described affected mother and daughter. Bilateral dislocation of the knees, pes cavus, cylindrically shaped fingers, and characteristic facies (wide-spaced eyes, flattened nasal bridge and prominent forehead) were present in both ... Features in addition to knee dislocations included flat face, accessory carpal bones, and short terminal phalanges creating pseudoclubbing. Multiple congenital dislocations with osseous anomalies and unusual facies are characteristic. Anterior dislocation of the tibia on the femur is usual. A juxtacalcaneal accessory ossification center and abnormality of vertebrae are observed ... this condition is usually recessive (see 245600), dominant inheritance seems certain ... abnormalities such as syndactyly, cleft palate, genital anomalies, and severe short stature are more frequent in the recessive form ... in her 30s the mother had developed polychondritis of her tracheobronchial cartilages with recurrent pulmonary problems because of airway stenosis ... abnormalities of the cervical spine were ... may be the most serious manifestation. Cervical kyphosis in particular may be life-threatening ... Of the 9 affected infants followed by Johnston et al. (1996), 5 were noted to have cervical kyphosis because of marked hypoplasia of 1 or 2 vertebral bodies ...
Larsen Syndrome
WebMD, January 29, 2004
Larsen syndrome
Dr. Loren J. Larsen, May 29, 2007
Larsen syndrome (or Larsen`s syndrome) is named after Dr. Loren J. Larsen from California, USA ...
Larsen syndrome
Larsen; Larson
New Sites; Informative Sites; Larsen Syndrome Bulletin Boards & Mailing List; ...
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Last Updated: 2007/08/30
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