Microcephaly, lymphedema, chorioretinopathy and atrial septal defect: a case report and review of the literature

Eventov‐Friedman, Smadar; Singer, Amihood; Shinwell, Eric S.

doi:10.1111/j.1651-2227.2008.01161.x

Cited by 9 publications

(11 citation statements)

References 17 publications

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“…MCLMR is characterized by a broad nose, upslanting palpebral fissures, a rounded nasal tip, a long philtrum, a pointed chin, a thin upper lip, prominent ears, atrial septal defect and lymphedema of the dorsum of the feet (pedal œdema) (Figure 1) [2,3]. Ocular anomalies, the most common of which is chorioretinal dysplasia, require long-term ophthalmic follow-up due to slow development.…”

Section: Introductionmentioning

confidence: 99%

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

Schlögel

Mendola

Fastré

et al. 2015

Orphanet J Rare Dis

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BackgroundMicrocephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) is a rare autosomal dominant disorder with variable expressivity. It is characterized by mild-to-severe microcephaly, often associated with intellectual disability, ocular defects and lymphedema. It can be sporadic or inherited. Eighty-seven patients have been described to carry a mutation in KIF11, which encodes a homotetrameric motor kinesin, EG5.MethodsWe tested 23 unreported MCLMR index patients for KIF11. We also reviewed the clinical phenotypes of all our patients as well as of those described in previously published studies.ResultsWe identified 14 mutations, 12 of which are novel. We detected mutations in 12 affected individuals, from 6 out of 6 familial cases, and in 8 out of 17 sporadic patients. Phenotypic evaluation of patients (our 26 + 61 earlier published = 87) revealed microcephaly in 91%, eye anomalies in 72%, intellectual disability in 67% and lymphedema in 47% of the patients. Unaffected carriers were rare (4 out of 87: 5%). Family history is not a requisite for diagnosis; 31% (16 out of 52) were de novo cases.ConclusionsAll inherited cases, and 50% of sporadic cases of MCLMR are due to germline KIF11 mutations. It is possible that mosaic KIF11 mutations cause the remainder of sporadic cases, which the methods employed here were not designed to detect. On the other hand, some of them might have another mimicking disorder and genetic defect, as microcephaly is highly heterogeneous. In aggregate, KIF11 mutations likely cause the majority, if not all, of MCLMR.

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Section: Introductionmentioning

confidence: 99%

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

Schlögel

Mendola

Fastré

et al. 2015

Orphanet J Rare Dis

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“…Till date only few patients with microcephaly lymphedema and/or chorioretinal dysplasia have been reported [Leung, 1985; Feingold and Bartoshesky, 1992; Angle et al, 1994; Kozma et al, 1996; Limwongse et al, 1999; Casteels et al, 2001; Vasudevan et al, 2005; Eventov‐Friedman et al, 2009; Hatt Brupbacher et al, 2009; Ostergaard et al, 2012]. Vasudevan et al [2005] reviewed previous patients with MLCRD syndrome and concluded that this syndrome is associated with distinctive facial features including severe microcephaly, upslanting palpebral fissures, prominent ears, a broad nose with rounded nasal tip, and a long philtrum with a pointed chin.…”

Section: Introductionmentioning

confidence: 99%

A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family

Hazan¹,

Østergaard²,

Öztürk³

et al. 2012

American J of Med Genetics Pt A

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Microcephaly–lymphedema–chorioretinal dysplasia (MLCRD) syndrome is a rare syndrome that was first described in 1992. Characteristic craniofacial features include severe microcephaly, upslanting palpebral fissures, prominent ears, a broad nose, and a long philtrum with a pointed chin. Recently, mutations in KIF11 have been demonstrated to cause dominantly inherited MLCRD syndrome. Herein, we present a patient with MLCRD syndrome whose parents were first cousins. The parents are unaffected, and thus a recessive mode of inheritance for the disorder was considered likely. However, the propositus carries a novel, de novo nonsense mutation in exon 2 of KIF11. The patient also had midline cleft tongue which has not previously been described in this syndrome. © 2012 Wiley Periodicals, Inc.

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“…(Angle et al, 1994;Casteels et al, 2001;Eventov-Friedman et al, 2009;Feingold & Bartoshesky 1992;Fryns et al, 1995;Limwongse et al, 1999;Ostergaard et al, 2012;Strauss et al, 2005;Vasudevan et al, 2005). Mental retardation is also usually present.…”

Section: Overviewmentioning

confidence: 99%

“…Congenital lymphedema is confined to the dorsa of the feet (Angle et al, 1994;Casteels et al, 2001;Eventov-Friedman et al, 2009;Feingold & Bartoshesky 1992;Fryns et al, 1995;Leung, 1985;Limwongse et al, 1999;Strauss et al, 2005;Vasudevan et al, 2005) and this is hardly observed in cases of congenital toxoplasmosis. (Table 1) Intracranial calcifications, which are likely to be present in cases of congenital toxoplasmosis are not observed in cases of MLCRD.…”

Section: Differential Diagnosismentioning

confidence: 99%

Pseudo Toxoplasmosis

Shimada¹

2012

Toxoplasmosis - Recent Advances

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Microcephaly, lymphedema, chorioretinopathy and atrial septal defect: a case report and review of the literature

Cited by 9 publications

References 17 publications

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family

Pseudo Toxoplasmosis

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