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Article

Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation.

Journal of medical genetics - 1 Jul 2000

Cormier-Daire V, Chauvet M L, Lyonnet S, Briard M L, Munnich A, Le Merrer M

Abstract excerpt

We report on the association of absent patellae, genital and renal anomalies, dysmorphic features, and mental retardation in seven children (six boys and one girl) belonging to five unrelated families. Flexion deformities of the knees and hips with club feet and absent patellae were consistently observed and scrotal hypoplasia and cryptorchidism were present in all boys (6/6). Dysmorphic features included a...

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Identifiers

PMID: 10882755
DOI: 10.1136/jmg.37.7.520
PMCID: PMC1734629

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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