Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hajdu-Cheney-Syndrom

Das Hajdu-Cheney-Syndrom ist eine autosomal dominante Erkrankung, die auf Mutationen des NOTCH2-Gens beruht. Klinisch ist sie charakteriziert durch Skelettfehlbildungen und polyzystischen Nieren.

Gliederung

Zystische Nierenerkrankungen
Alagille-Syndrom 2
Autosomal dominante polyzystische Nierenerkrankung
Autosomal rezessive polyzystische Nieren und Lebererkrankung
Branchio-Oto-Renale Dysplasie
Hajdu-Cheney-Syndrom
NOTCH2
Komplex medullärer Zystennierenerkrankungen
Nierenzysten und Diabetes (RCAD)
Polyzystische Nierenerkrankung mit hyperinsulinämischer Hypoglycämie

Referenzen:

1.

Kaplan P et. al. (1995) Cystic kidney disease in Hajdu-Cheney syndrome.

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2.

Rosser EM et. al. (1996) Serpentine fibula syndrome: expansion of the phenotype with three affected siblings.

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3.

Ramos FJ et. al. (1998) Further evidence that the Hajdu-Cheney syndrome and the "serpentine fibula-polycystic kidney syndrome" are a single entity.

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4.

Albano LM et. al. (2007) Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients.

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5.

Simpson MA et. al. (2011) Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss.

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6.

Isidor B et. al. (2011) Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.

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7.

Majewski J et. al. (2011) Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.

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8.

Gray MJ et. al. (2012) Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome.

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9.

Elias AN et. al. (1978) Hereditary osteodysplasia with acro-osteolysis. (The Hajdu-Cheney syndrome).

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10.

Gilula LA et. al. (1976) Idiopathic nonfamilial acro-osteolysis with cortical defects and mandibular ramus osteolysis.

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11.

Weleber RG et. al. (1976) The Hajdu-Cheney syndrome. Report of two cases and review of the literature.

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12.

Brown DM et. al. (1976) The acro-osteolysis syndrome: Morphologic and biochemical studies.

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13.

Kawamura J et. al. (1991) Hajdu-Cheney syndrome: MR imaging.

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14.

None (1988) Serpentine fibula--polycystic kidney syndrome. A variant of the Melnick-Needles syndrome or a distinct entity?

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15.

Udell J et. al. (1986) Idiopathic familial acroosteolysis: histomorphometric study of bone and literature review of the Hajdu-Cheney syndrome.

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16.

Dereymaeker AM et. al. (1986) Melnick-Needles syndrome (osteodysplasty). Clinical and radiological heterogeneity.

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17.

Herrmann J et. al. (1973) Arthro-dento-osteo dysplasia (Hajdu-Cheney syndrome). Review of a genetic "acro-osteolysis" syndrome.

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18.

Matisonn A et. al. (1973) Familial acro-osteolysis.

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19.

ter Haar B et. al. (1982) Melnick-Needles syndrome: indication for an autosomal recessive form.

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20.

Hamel BC et. al. (1995) Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report.

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21.

O'Reilly MA et. al. (1994) Hajdu-Cheney syndrome.

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22.

Majewski F et. al. (1993) Serpentine fibula--polycystic kidney syndrome and Melnick-Needles syndrome are different disorders.

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23.

Adès LC et. al. (1993) Hydrocephalus in Hajdu-Cheney syndrome.

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24.

Fryns JP et. al. (1997) Vocal cord paralysis and cystic kidney disease in Hajdu-Cheney syndrome.

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25.

None (1997) Serpentine fibula syndrome: a variant clinical presentation of Hajdu-Cheney syndrome?

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26.

Brennan AM et. al. (2001) Hajdu--Cheney syndrome: evolution of phenotype and clinical problems.

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27.

None (1965) ACRO-OSTEOLYSIS.

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28.

Maas SM et. al. (2004) Further delineation of Frank-ter Haar syndrome.

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29.

HAJDU N et. al. (1948) Cranio-skeletal dysplasia.

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