Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Knochendysplasie

Knochendysplasie ist eine heterogene Gruppe von Knochenerkrankungen verstanden, die durch eine Fehlentwicklung entstehen.

Gliederung

Erbliche Knochenerkrankungen
Erbliche Erkrankungen mit heterotroper Knochenbildung
Hereditäre Rachitis
Knochendysplasie
Achondroplasie
FGFR3
Antley-Bixler-Syndrom 1
POR
Antley-Bixler-Syndrom 2
FGFR2
Apert-Syndrom
FGFR2
Blomstrand-Chondrodysplasie
PTH1R
Brachydaktylie Typ E2
PTHLH
Crouzon-Syndrom
FGFR3
Eiken-Syndrom
PTH1R
McCune-Albright-Syndrom
GNAS
Muenke-Syndrom
FGFR3
Murk-Jansen metaphyseale Chondrodysplasie
PTH1R
Osteopathia striata mit kranialer Sklerose
AMER1
Schimke-Dysplasie
SMARCAL1
Thanatophore Dysplasie 1
FGFR3
Thanatophore Dysplasie 2
FGFR3
Zahnbildungsstörungen
PTH1R
Osteopetrose
Osteoporose
Parodontales Ehlers-Danlos-Syndrom
Pseudohypoparathyreoidismus

Referenzen:

1.

Boerkoel CF et al. (2002) Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

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2.

Taha D et al. (2004) Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasia.

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3.

Clewing JM et al. (2007) Schimke immuno-osseous dysplasia: a clinicopathological correlation.

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4.

Clewing JM et al. (2007) Schimke immunoosseous dysplasia: suggestions of genetic diversity.

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5.

Spranger J et al. (1991) Schimke immuno-osseous dysplasia: a newly recognized multisystem disease.

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6.

Tinschert S et al. (1999) McCune-Albright syndrome: clinical and molecular evidence of mosaicism in an unusual giant patient.

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7.

Kirk JM et al. (1999) Cushing's syndrome caused by nodular adrenal hyperplasia in children with McCune-Albright syndrome.

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8.

Kitoh H et al. (1999) Different genotype of periosteal and endosteal cells of a patient with polyostotic fibrous dysplasia.

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9.

Saraiva JM et al. (1999) Schimke immuno-osseous dysplasia: case report and review of 25 patients.

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10.

Reitzik M et al. (1975) Familial polyostotic fibrous dysplasia.

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11.

de Sanctis C et al. () McCune-Albright syndrome: a longitudinal clinical study of 32 patients.

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12.

Bianco P et al. (2000) Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone.

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13.

Boerkoel CF et al. () Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature.

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14.

Sigurdardottir S et al. (2000) Mental retardation and seizure disorder in Schimke immunoosseous dysplasia.

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15.

da Fonseca MA et al. (2000) Dental findings in the Schimke immuno-osseous dysplasia.

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16.

Petty EM et al. (2000) Successful bone marrow transplantation in a patient with Schimke immuno-osseous dysplasia.

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17.

Coutant R et al. (2001) Macroorchidism due to autonomous hyperfunction of Sertoli cells and G(s)alpha gene mutation: an unusual expression of McCune-Albright syndrome in a prepubertal boy.

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18.

Obuobie K et al. (2001) McCune-Albright syndrome: growth hormone dynamics in pregnancy.

[^]
19.

Laven JS et al. (2001) Dynamics of ovarian function in an adult woman with McCune--Albright syndrome.

[^]
20.

Di George AM et al. (1975) Editorial: Albright syndrome: is it coming of age?

[^]
21.

Akintoye SO et al. (2002) Characterization of gsp-mediated growth hormone excess in the context of McCune-Albright syndrome.

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22.

Lou S et al. (2002) Longevity in Schimke immuno-osseous dysplasia.

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23.

Collins MT et al. (2003) Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gs alpha mutations.

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24.

HIBBS RE et al. (1952) [Albright's syndrome].

[^]
25.

Wrong O et al. (1992) Tegernsee giant.

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26.

Cremonini N et al. (1992) Atypical McCune-Albright syndrome associated with growth hormone-prolactin pituitary adenoma: natural history, long-term follow-up, and SMS 201-995--bromocriptine combined treatment results.

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27.

Premawardhana LD et al. (1992) Acromegaly and its treatment in the McCune-Albright syndrome.

[^]
28.

Plotkin H et al. (2003) Effect of pamidronate treatment in children with polyostotic fibrous dysplasia of bone.

[^]
29.

Laven JS et al. (2004) Management of infertility in a patient presenting with ovarian dysfunction and McCune-Albright syndrome.

[^]
30.

Lücke T et al. (2004) Generalized atherosclerosis sparing the transplanted kidney in Schimke disease.

[^]
31.

Lumbroso S et al. (2004) Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European Collaborative Study.

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32.

Schwindinger WF et al. (1992) Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.

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33.

Elizondo LI et al. (2006) Schimke immuno-osseous dysplasia: a cell autonomous disorder?

[^]
34.

Nerlich A et al. (1991) Juvenile gigantism plus polyostotic fibrous dysplasia in the Tegernsee giant.

[^]
35.

Schwindinger WF et al. (1991) DNA light on the Tegernsee giant.

[^]
36.

Feuillan P et al. (2007) Letrozole treatment of precocious puberty in girls with the McCune-Albright syndrome: a pilot study.

[^]
37.

Yoshimoto M et al. (1991) A case of neonatal McCune-Albright syndrome with Cushing syndrome and hyperthyroidism.

[^]
38.

Lücke T et al. (2007) Cerebellar atrophy in Schimke-immuno-osseous dysplasia.

[^]
39.

Endo M et al. (1991) Monozygotic twins discordant for the major signs of McCune-Albright syndrome.

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40.

Mieszczak J et al. (2008) The aromatase inhibitor anastrozole is ineffective in the treatment of precocious puberty in girls with McCune-Albright syndrome.

[^]
41.

Baradaran-Heravi A et al. (2008) Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia.

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42.

Elizondo LI et al. (2009) Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation.

[^]
43.

Weinstein LS et al. (1991) Activating mutations of the stimulatory G protein in the McCune-Albright syndrome.

[^]
44.

Feuillan PP et al. (1991) Luteinizing hormone-releasing hormone (LHRH)-independent precocious puberty unresponsive to LHRH agonist therapy in two girls lacking features of the McCune-Albright syndrome.

[^]
45.

Lemli L et al. (1977) Fibrous dysplasia of bone. Report of female monozygotic twins with and without the McCune-Albright syndrome.

[^]
46.

Hamilton CR et al. (1973) Unusual types of hyperthyroidism.

[^]
47.

Zacharin M et al. (2011) Gastrointestinal polyps in McCune Albright syndrome.

[^]
48.

Abs R et al. (1990) Acromegaly, multinodular goiter and silent polyostotic fibrous dysplasia. A variant of the McCune-Albright syndrome.

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49.

Ehrich JH et al. (1990) Association of spondylo-epiphyseal dysplasia with nephrotic syndrome.

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50.

Döhler JR et al. (1986) Idiopathic hyperphosphatasia with dermal pigmentation. A twenty-year follow-up.

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51.

Feuillan PP et al. (1986) Treatment of precocious puberty in the McCune-Albright syndrome with the aromatase inhibitor testolactone.

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52.

Taconis WK et al. (1988) Osteosarcoma in fibrous dysplasia.

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53.

Viljoen DL et al. (1988) Polyostotic fibrous dysplasia with cranial hyperostosis: new entity or most severe form of polyostotic fibrous dysplasia?

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54.

Kaplan FS et al. (1988) Estrogen receptors in bone in a patient with polyostotic fibrous dysplasia (McCune-Albright syndrome).

[^]
55.

Giovannelli G et al. (1978) McCune-Albright syndrome in a male child: a clinical and endocrinologic enigma.

[^]
56.

Happle R et al. (1986) The McCune-Albright syndrome: a lethal gene surviving by mosaicism.

[^]
57.

Hall R et al. (1972) Hypersecretion of hypothalamic releasing hormones: a possible explanation of the endocrine manifestations of polyostotic fibrous dysplasia (Albright's syndrome).

[^]
58.

McArthur RG et al. (1979) Albright's syndrome with rickets.

[^]
59.

Shires R et al. (1979) Idiopathic hypothalamic hypogonadotropic hypogonadism with polyostotic fibrous dysplasia.

[^]
60.

Axelrod L et al. (1970) Bones, stones and hormones: the contributions of Fuller Albright.

[^]
61.

Schey WL et al. (1971) Familial pubic bone maldevelopment.

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62.

Wirth WA et al. (1971) Multiple intramuscular myxomas. Another extraskeletal manifestation of fibrous dysplasia.

[^]
63.

Firat D et al. (1968) Fibrous dysplasia of the bone. Review of twenty-four cases.

[^]
64.

Benedict PH et al. (1966) Sex precocity and polyostotic fibrous dysplasia. Report of a case in a boy with testicular biopsy.

[^]
65.

Comite F et al. (1984) Cyclical ovarian function resistant to treatment with an analogue of luteinizing hormone releasing hormone in McCune-Albright syndrome.

[^]
66.

Nager GT et al. () Fibrous dysplasia of the temporal bone. Update with case reports.

[^]
67.

Alvarez-Arratia MC et al. (1983) A probable monogenic form of polyostotic fibrous dysplasia.

[^]
68.

Cole DE et al. (1983) Panostotic fibrous dysplasia: a congenital disorder of bone with unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia.

[^]
69.

Candeliere GA et al. (1995) Increased expression of the c-fos proto-oncogene in bone from patients with fibrous dysplasia.

[^]
70.

Malchoff CD et al. (1994) An unusual presentation of McCune-Albright syndrome confirmed by an activating mutation of the Gs alpha-subunit from a bone lesion.

[^]
71.

Hashimoto K et al. (1994) Juvenile variant of Schimke immunoosseous dysplasia.

[^]
72.

Santavá A et al. (1994) Spondyloepiphyseal dysplasia with nephrotic syndrome (Schimke immunoosseous dysplasia).

[^]
73.

Ludman MD et al. (1993) Schimke immuno-osseous dysplasia: case report and review.

[^]
74.

et al. (1993) Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 7-1993. A six-year-old boy with multiple bone lesions, repeated fractures, and sexual precocity.

[^]
75.

Mastorakos G et al. (1997) Hyperthyroidism in McCune-Albright syndrome with a review of thyroid abnormalities sixty years after the first report.

[^]
76.

Dent CE et al. (1976) Hypophosphataemic osteomalacia in fibrous dysplasia.

[^]
77.

Olsen BR et al. (1998) "A rare disorder, yes; an unimportant one, never".

[^]
78.

Bianco P et al. (1998) Reproduction of human fibrous dysplasia of bone in immunocompromised mice by transplanted mosaics of normal and Gsalpha-mutated skeletal progenitor cells.

[^]
79.

Kaitila I et al. (1998) Autoimmune enteropathy in Schimke immunoosseous dysplasia.

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80.

Boerkoel CF et al. (1998) Schimke immunoosseous dysplasia complicated by moyamoya phenomenon.

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