Larsen Syndrome

Topics: | Larsen Syndrome | Radiological Diagnosis Larsen | Larsen |

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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
Victor A. McKusick, OMIM, 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
Victor A. McKusick, OMIM, 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
Larsen; Larson
New Sites; Informative Sites; Larsen Syndrome Bulletin Boards & Mailing List; ...

Luxaciones congénitas múltiples o síndrome de Larsen. Presentación de tres casos
Dr. José Manuel González Gil et al., Rev Cubana Ortop Traumatol 2000;14(1-2):62-5
[Illustrated] [Spanish]
estudio de 3 pacientes ... Uno de los pacientes presentó luxación de las 6 grandes articulaciones ... existen otras afecciones que presentan luxaciones congénitas, aunque divergen en otro sentido de la afección que estudiamos, entre estas, el síndrome de Marfán, la artrogriposis múltiple congénita y el síndrome de Ehlers Danlos ...

SÍNDROME DE LARSEN
J Pediatr Orthop. 1994;14(1):63-73
[Illustrated] [Spanish]
En 1950 Joseph Larsen describió cinco pacientes con dismorfismo facial, hiperelasticidad articular y luxaciones múltiples y cuya frecuencia es de uno por cada cien mil nacidos vivos ... El síndrome de Larsen (SL) se considera actualmente como una osteocondrodisplasia autosómica dominante (aunque se han informado casos esporádicos) caracterizada por luxaciones congénitas de articulaciones grandes, hipermovilidad articular y anomalías cranio-faciales (puente nasal plano, hipertelorismo y ocasionalmente fisura palatina); también pueden tener problemas respiratorios debidos a la rigidez de las vías aéreas superiores. Varias mutaciones en el gen FLNB (localizado en 3p14.3), que codifica la filamina B, son las responsables de la forma dominante ... Las mutaciones del gen afectado ... pueden causar ... también la displasia en boomerang – osteocondrodisplasia perinatal letal caracterizada por ausencia o sub-osificación de los huesos de las extremidades y de las vértebras, y las atelosteogénesis I y III ... pueden tener múltiples anomalías cardiovasculares ... una isla en el Océano Índico –situada entre las más grandes islas de Madagascar y Mauricio ... su pequeño tamaño y escasa población (789.000 habitantes) ... es la Isla Reunión ... parte de Francia- es miembro de la Unión Europea, su moneda es el Euro ...unos cuarenta casos de niños afectados por SL (incidencia de 1/1500 nacimientos

Larsen Syndrome
Visitor Comments [Ukrainian]
A fact sheet for specialists ... Inclusions, exclusions ... Diagnostic criteria ... Clinical picture ... Associated defects ... Differential diagnosis ... Etiology ... Prognosis ... Complications ... Treatment possibilities ... Prevention ...

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Last Updated: 2011/3/29

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