Larsen's syndrome: A skeletal dysplasia with multiple joint dislocations and unusual facies

Latta, Robert J.; Graham, C. Benjamin; Aase, Jon M.; Scham, Stewart M.; Smith, David W.

doi:10.1016/s0022-3476(71)80014-8

Cited by 104 publications

(62 citation statements)

References 6 publications

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“…Though having the full-blown picture, the severity was nevertheless different among the three subjects: while the propositus and his older daughter were able to walk, but with some difficulty, the other daughter, who was 7 years old, was unable even to stand. This is consistent with the well-known variability of expresssivity of the gene (Latta et al, 1971).…”

Section: Discussionsupporting

confidence: 91%

“…In the case by Latta et al (1971), the diagnosis in the mother of the propositus remains uncertain, because she had only a saddle nose, which developed after being hit by a tennis-ball. The report by McFarlane (1947) is more convincing, in that a woman with low nasal bridge, congenital dislocation of both knees, and hyperextension of both elbows, produced three affected children, each by a different mate, all of whom had bilateral knee dislocation.…”

Section: Discussionmentioning

confidence: 99%

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Larsen syndrome in two generations of an Italian family.

Ventruto¹,

Festa²,

Sebastio³

et al. 1976

Journal of Medical Genetics

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Section: Discussionsupporting

confidence: 91%

Section: Discussionmentioning

confidence: 99%

Larsen syndrome in two generations of an Italian family.

Ventruto¹,

Festa²,

Sebastio³

et al. 1976

Journal of Medical Genetics

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“…Many sporadic cases have been described in addition to an autosomal-dominant form [17,24,25]. The autosomal-dominant form has been associated with mutations in FLNB, a cytoskeletal structural protein [14].…”

Section: Discussionmentioning

confidence: 99%

Congenital Knee Dislocation in a Patient with Larsen Syndrome and a Novel Filamin B Mutation

Dobbs

Boehm²,

Grange³

et al. 2008

Clinical Orthopaedics &Amp; Related Research

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We treated a patient with multiple congenital joint dislocations and facial dysmorphisms consistent with Larsen syndrome. Sequencing of the FLNB gene resulted in identification of a novel, de novo 508G[C point mutation resulting in substitution of proline for a highly conserved alanine (A170P). This mutation has not been described previously but is likely causative because this alanine is highly conserved and is located in the calponin homology domain where other mutations have been described. We also report the successful use of a minimally invasive technique in achieving initial correction of bilateral congenital knee dislocations in this patient. The technique consists of serial manipulations and castings followed by an open quadriceps tenotomy. Longer followup is needed to ensure maintenance of correction and to avoid the need for more extensive surgery, which has been the traditional treatment for congenital knee dislocation associated with Larsen syndrome.

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“…Supernumerary digital creases have been described in partial deletions of chromosome 1q [Watson et al, 1986], partial trisomy of 14q [Raoul et al, 1975], partial trisomy of 13q [Schinzel et al, 1976], cerebrooculo-facio-skeletal syndrome [Lurie et al, 1976], and in sickle cell disease [DeJong and Platou, 1967;Zizmor, 1973]. Individuals with Larsen syndrome have been reported to have both supernumerary and reduced numbers of digital flexion creases [Latta et al, 1971;Dallapiccola and Capra, 1973].…”

Section: Introductionmentioning

confidence: 99%

Supernumerary digital flexion creases: An additional clinical manifestation of Alagille syndrome

et al. 2002

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Alagille syndrome (AGS; OMIM 118450) is a complex dominantly inherited multisystem disorder involving the liver, heart, eyes, facies, skeleton, and other systems. Criteria for the clinical diagnosis have been established as the presence of bile duct paucity on liver biopsy in association with three of five major clinical findings (cholestasis, butterfly vertebrae, posterior embryotoxon, congenital heart disease, and facial features). Jagged1 has been identified as the AGS disease gene. Jagged1 is a large gene, with no mutational hot spots, making molecular testing difficult at this time. Other clinical features would prove helpful in establishing the diagnosis in the absence of molecular confirmation. Supernumerary digital flexion creases have been identified in 16/46 (35%) of AGS probands examined through the Alagille Syndrome Diagnostic Center at the Children's Hospital of Philadelphia. Although digital abnormalities have been noted in AGS in the past, including short distal phalanges and fifth finger clinodactyly, digital crease abnormalities have never before been reported. Supernumerary digital creases have been reported in less than 1% of the general population. The presence of extra and missing digital creases in individuals with normal joint anatomy, their occurrence in several syndromes, and mouse in situ expression studies indicate that genetic factors contribute to digital crease formation. However, these factors are poorly understood. Hypotheses regarding the origin of flexion creases are discussed. The identification of supernumerary digital creases in one‐third of AGS probands provides another diagnostic aid and allows for speculation of the role of Jagged1 in the molecular development of digital crease patterns. © 2002 Wiley‐Liss, Inc.

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Larsen's syndrome: A skeletal dysplasia with multiple joint dislocations and unusual facies

Cited by 104 publications

References 6 publications

Larsen syndrome in two generations of an Italian family.

Larsen syndrome in two generations of an Italian family.

Congenital Knee Dislocation in a Patient with Larsen Syndrome and a Novel Filamin B Mutation

Supernumerary digital flexion creases: An additional clinical manifestation of Alagille syndrome

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