Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes (Q33872398)

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12 December 2019

title

Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes (English)

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12 December 2019

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7

Verloes A

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12 December 2019

author name string

David A

1

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12 December 2019

Bitoun P

2

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12 December 2019

Lacombe D

3

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12 December 2019

Lambert JC

4

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12 December 2019

Nivelon A

5

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12 December 2019

Vigneron J

6

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12 December 2019

language of work or name

English

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publication date

1 August 1999

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Journal of Medical Genetics

12 December 2019

published in

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12 December 2019

volume

36

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issue

8

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12 December 2019

page(s)

599-603

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Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21.

12 December 2019

cites work

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Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families

28 July 2018

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Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci.

28 July 2018

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Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity

28 July 2018

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Natural course of visual functions in the Bardet-Biedl syndrome

28 July 2018

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Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.

28 July 2018

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Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping

28 July 2018

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The McKusick-Kaufman syndrome: phenotypic variation observed in familial cases as a clue for the evaluation of sporadic cases.

28 July 2018

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Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients

28 July 2018

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Genital abnormalities in females with Bardet-Biedl syndrome

28 July 2018

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Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15

28 July 2018

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Bardet-Biedl syndrome and related disorders

28 July 2018

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A case of Hirschsprung's disease associated with Laurence-Moon-Bardet-Biedl syndrome

28 July 2018

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Laurence-Moon-Biedl syndrome, associated with multiple genitourinary tract anomalies

28 July 2018

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Hereditary hydrometrocolpos with polydactyly in infancy

28 July 2018

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The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland. Clinical, genetic and epidemiological studies

28 July 2018

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Pathology of Laurence-Moon-Bardet-Biedl syndrome

28 July 2018

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Further delineation of the McKusick-Kaufman hydrometrocolpos-polydactyly syndrome

28 July 2018

1 reference

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The Spectrum of Renal Disease in Laurence–Moon–Biedl Syndrome

28 July 2018

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Sonographic and urographic correlation in Bardet-Biedl syndrome (formerly Laurence-Moon-Biedl syndrome).

28 July 2018

1 reference

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Hypothalamic-pituitary dysfunction and Hirschsprung's disease in the Bardet-Biedl syndrome.

28 July 2018

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The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome

28 July 2018

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The Kaufman-McKusick syndrome: another association

28 July 2018

1 reference

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Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies

28 July 2018

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The McKusick-Kaufman syndrome: Recessively inherited vaginal atresia, hydrometrocolpos, uterovaginal duplications, anorectal anomalies, postaxial polydactyly, and congenital heart disease

28 July 2018

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HEART DISEASE IN THE LAURENCE-MOON-BIEDL-BARDET SYNDROME: A REVIEW AND A REPORT OF 3 BROTHERS.

28 July 2018

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HYDROMETROCOLPOS AS A SIMPLY INHERITED MALFORMATION.

29 October 2018

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Genetic and physical mapping of the McKusick-Kaufman syndrome

29 October 2018

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Diagnostic problems in a case with mucometrocolpos, polydactyly, congenital heart disease, and skeletal dysplasia.

29 October 2018

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Pallister-Hall syndrome and McKusick-Kaufmann syndrome: one entity?

29 October 2018

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Urologic manifestations of Laurence-Moon-Biedl syndrome

29 October 2018

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Rare syndromes. The Kaufman-McKusick syndrome. A review of the 44 cases reported in the literature.

29 October 2018

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PATHOLOGICAL ASSOCIATIONS IN HEREDITARY CONGENITAL AMBLYOPIA. IMPORTANCE OF THEIR DETECTION

29 October 2018

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12 December 2020

Ocular and systemic manifestations of the Bardet-Biedl syndrome

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12 December 2020

Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib-polydactyly syndrome spectrum: a clinicopathologic study

1 reference

12 December 2020

McKusick-Kaufman syndrome: the diagnostic challenge of abdominal distension in the neonatal period

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12 December 2020

Obesity and genitourinary anomalies in Bardet-Biedl syndrome after renal transplantation

1 reference

12 December 2020

Bardet-Biedl syndrome: delayed diagnosis in a child with Hirschsprung disease

1 reference

12 December 2020

Hydrometrocolpos as a neonatal manifestation of the Bardet-Biedl syndrome

1 reference

12 December 2020

Trichorhinophalangeal syndrome type 2: another syndromic form of hydrometrocolpos

1 reference

12 December 2020

Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes: are they related?

1 reference

12 December 2020

Variable phenotype in Kaufman-McKusick syndrome: report of an inbred Muslim family and review of the literature

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12 December 2020

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12 December 2020

Hydrometrocolpos, postaxial polydactyly, congenital heart disease, and anomalies of the gastrointestinal and genitourinary tracts: A rare autosomal recessive syndrome

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12 December 2020

Identifiers

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12 December 2019

PubMed publication ID

10465109

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