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Article

Bardet-Biedl syndrome initially presenting as McKusick-Kaufman syndrome.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Aug 2004

Hou Jia-Woei

Abstract excerpt

Bardet-Biedl syndrome (BBS) and McKusick-Kaufman syndrome (MKKS) are rare congenital disorders of autosomal recessive inheritance. Because of the phenotypic overlap of both syndromes, including hydrometrocolpos (HMC) and postaxial polydactyly (PAP) in the neonatal stage, the potential for diagnos...

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Source

Identifiers

PMID: 15340663

Genes

MKKS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15340663-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Bardet-Biedl syndrome initially presenting as McKusick-Kaufman syndrome.PMID 15340663Read ↗

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Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.Semantic proximity Read ↗

A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome?Semantic proximity Read ↗

McKusik-Kaufman syndrome: prenatal diagnosis, genetics and follow up.Semantic proximity Read ↗

Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. Case series and a literature review.Semantic proximity Read ↗

Expansion of the prenatal phenotype of Baraitser-Winter syndrome: Presentation of two cases of multiple congenital anomaly syndrome.Semantic proximity Read ↗

Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients.Semantic proximity Read ↗

Atypical phenotype of a patient with Bardet-Biedl syndrome type 4.Semantic proximity Read ↗

The oligogenic properties of Bardet-Biedl syndrome.Semantic proximity Read ↗

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Mutations in MKKS cause Bardet-Biedl syndrome.Semantic proximity Read ↗

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