Provisional new syndrome of MR/MCA with evolving phenotype

Yves Lacassie, Éva Morava, Ivan LaMotta

Research output: Contribution to journalArticle

Abstract

We report on a 10-year-old patient with a provisionally new syndrome of MR/MCA with an evolving phenotype. Major findings at birth included short umbilical cord; striking hypotonia and cutis laxa with increased OFC; facial abnormalities with epicanthal folds, telecanthus, mild hypertelorism, wide flat nasal bridge, hypoplastic nose with up-turned nostrils, and low-set dysplastic ears; asymmetric deformed chest with prominent sternum and winged scapulae; wider thumbs and halluces; left cryptorchidism and unusual perianal creases. Chromosomal and metabolic studies were normal. With aging, the phenotype has changed significantly: cutis laxa disappeared, the perianal creases and hypotonia are much milder, the initial apparent macrocephaly turned out to be true microcephaly, broad thumbs are less evident, but skeletal anomalies are more striking. Unsuccessful extensive diagnostic searches since birth and presentation in meetings suggest the presence of a private syndrome.

Original languageEnglish (US)
Pages (from-to)213-217
Number of pages5
JournalAmerican journal of medical genetics
Volume113
Issue number2
DOIs
StatePublished - Nov 22 2002

Keywords

  • Chest deformity
  • Cutis laxa
  • Dural ectasia
  • Evolving phenotype
  • Hypoplastic nose
  • Hypotonia
  • Mental retardation
  • New syndrome
  • Telecanthus
  • Wide thumbs and halluces

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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