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Article

Severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism.

Clinical dysmorphology - 1 Apr 2000

Devriendt K, Keymolen K, Roelen L, Van Goethem G, Meireleire J, Fryns J P

Abstract excerpt

We present an adult female patient with a so far unreported syndrome of severe short stature, severe mental retardation, facial dysmorphism and hyperphalangy of the index fingers. Parental consanguinity suggests an autosomal recessive inheritance.

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PMID: 10826622
DOI: 10.1097/00019605-200009020-00007

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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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