Larsen's Syndrome:<i>Report of Three Cases in the One Family, Mother and Two Offspring</i>

Trigueros, A. Perez; Vazquez, J. L. Vilanova; Miguel, G. Fdez. Diez De

doi:10.3109/17453677808993241

Cited by 12 publications

(2 citation statements)

References 9 publications

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“…The similarities in the elbow include dysplasia of the distal end of the humerus, anterior angulation of the capitellum, presence of abnormal ossicles around the elbow joint and anterior dislocation of the humero-ulnar joint. However, the other pathognomic features of Larsen's syndrome, which include joint laxity, multiple joint dislocations [2,3,7,8,9,10,11,12,13], spatulate thumb [2,3,7,8,9,13], cylindrical fingers [2,3,7,8,9,11,12,13], spinal anomalies [2,3,7,8,9,10,12,13], and abnormal ossification centres around the wrist and feet [2,3,7,8,9,12,13,14], were all absent in this child. Thus, although the child had some features resembling Larsen's syndrome, she could not be placed under this umbrella because many of the pathognomic features of this syndrome were absent.…”

Section: Benjamin Joseph Renjit a Varghesementioning

confidence: 98%

Congenital distal humeral dysplasia: a case report

Joseph

Varghese

2003

Pediatric Radiology

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Congenital dysplasia of the humerus is very rare. It is characteristically seen in omodysplasia and has also been reported as one of the associated features of Larsen's syndrome. We report a 4-year-old girl with bilateral humero-ulnar dysplasia, with dislocation of the elbows, facial dysmorphism, ball-and-socket ankles and foot deformities. Although the elbow dysplasia is similar to that seen in Larsen's syndrome, other pathognomic features of Larsen's syndrome were absent. The changes seen in the elbows in this patient are also different from those encountered in omodysplasia. We believe that this condition may be a distinct form of skeletal dysplasia hitherto undescribed.

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Section: Benjamin Joseph Renjit a Varghesementioning

confidence: 98%

Congenital distal humeral dysplasia: a case report

Joseph

Varghese

2003

Pediatric Radiology

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“…Autosoma1 dominant transmission with clinical heterogeneity is the more common mode of inheritance [McFarlane, 1947;Harris and Cullen, 1971;Latta et al, 1971;Sugarman, 1975;Ventruto et al, 1976;Habermann et al, 1976;Perez Trigueros et al, 1978;Stanley and Seymour, 19851. In the recessive form of the disorder, there is intrafamilial variability in expression, as seen in affected sibs born to normal parents [Silverman, 1972; Steel and Kohl, 1972;Renault et al, 1982;Bharucha et al, 19831.…”

Section: Discussionmentioning

confidence: 99%

Long‐term follow‐up of two sibs with Larsen syndrome possibly due to parental germ‐line mosaicism

et al. 1993

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Larsen syndrome is a heterogeneous (autosomal dominant or recessive) disorder of characteristic facial changes, multiple joint dislocations, and bone deformities. Few data on the adult presentation of the recessive form of this disorder have been reported; thus, we set out to describe two sibs thought to be affected with autosomal recessive Larsen syndrome who were evaluated as infants and later as adults. Aside from secondary joint changes and the presence of cataracts, changes described in children with autosomal recessive Larsen syndrome were noted. Three years after evaluation, the sister gave birth to a daughter with Larsen syndrome. This occurrence raises the possibility of germ-line mosaicism as the mode of inheritance in this family. Thus, germ-line mosaicism must be considered in the genetic counseling of families with Larsen syndrome in which neither parent appears affected. These patients also illustrate that despite the severe skeletal and joint deformities, the prognosis can be good with careful orthopedic management.

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A lethal, larsen‐like multiple joint dislocation syndrome

et al. 1982

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We describe here two isolated cases of lethal, Larsen-like multiple joint dislocation syndrome. Death occurred shortly after birth with pulmonary insufficiency due to tracheomalacia and/or lung hypoplasia. Both had abnormal dermal collagen bundles. In one case, histochemical studies showed abnormal cartilagenous matrix and striking deficiency in the dense collagen bundles of joint capsules; electronmicroscopic studies of the hyaline cartilage of the trachea documented a relative increase of the small, short fibers with decrease of the matrix collagen fibers. This study confirms that this Larsen-like syndrome is a disorder of connective tissue, possibly involving dysmaturity of the collagen fibers, with a predilection for joint capsules and tracheal cartilage. This lethal condition is characterized by pulmonary insufficiency, tracheomalacia, and collagen fiber dysmaturity.

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Larsen's Syndrome:Report of Three Cases in the One Family, Mother and Two Offspring

Cited by 12 publications

References 9 publications

Congenital distal humeral dysplasia: a case report

Congenital distal humeral dysplasia: a case report

Long‐term follow‐up of two sibs with Larsen syndrome possibly due to parental germ‐line mosaicism

A lethal, larsen‐like multiple joint dislocation syndrome

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