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Langer-Mesomelie

Die Langer mesomelische Dysplasie ist ein mesomeler Kleinwuchs, Radius, Ulna, Tibia und Fibula betreffend. Der Erkrankung liegen Mutationen des SHOX-Gens zugrunde, welches sich auf beiden Gonosomen befindet. Die Vererbung ist pseudo-autosomal rezessiv. Kinder können jedoch aufgrund der Haploinsuffizienz einen SHOX-bedingten Kleinwuchs oder ein Leri-Layani-Weill-Syndrom entwickeln.

Gliederung

Kleinwuchs, SHOX-bedingt
Dyschondrosteosis Leri-Weill
Langer-Mesomelie
SHOX
X-chromosomaler familiärer Kleinwuchs
Y-chromosomaler familiärer Kleinwuchs

Referenzen:

1.

Sabherwal N et al. (2004) Impairment of SHOX nuclear localization as a cause for Léri-Weill syndrome.

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2.

None (1995) The concurrence of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Langer type of mesomelic dwarfism in the same patient. Evidence of the location of Langer type of mesomelic dwarfism at 3q22.3-q23?

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3.

Kunze J et al. (1980) Mesomelic dysplasia, type Langer--a homozygous state for dyschondrosteosis.

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4.

None (1967) Mesomelic dwarfism of the hypoplastic ulna, fibula, mandible type.

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5.

Fryns JP et al. (1979) Langer type of mesomelic dwarfism as the possible homozygous expression of dyschondrosteosis.

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6.

Goldblatt J et al. (1987) Heterozygous manifestations of Langer mesomelic dysplasia.

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7.

Evans MI et al. (1988) Ultrasonographic prenatal diagnosis and fetal pathology of Langer mesomelic dwarfism.

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8.

BLOCKEY NJ et al. (1963) AN UNUSUAL SYMMETRICAL DISTAL LIMB DEFORMITY IN SIBLINGS.

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9.

Espiritu C et al. (1975) Mesomelic dwarfism as the homozygous expression of dyschondrosteosis.

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10.

Robertson SP et al. (2000) Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia.

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11.

Belin V et al. (1998) SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).

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12.

Barca-Tierno V et al. (2011) Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.

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13.

Bertorelli R et al. (2007) The homozygous deletion of the 3' enhancer of the SHOX gene causes Langer mesomelic dysplasia.

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14.

Thomas NS et al. (2004) SHOX mutations in a family and a fetus with Langer mesomelic dwarfism.

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15.

Sabherwal N et al. (2004) A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri-Weill dyschondrosteosis and Langer dysplasia.

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16.

OMIM.ORG article

Omim 249700 external link
17.

Orphanet article

Orphanet ID 2632 external link
Update: 14. August 2020
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