Mental Retardation, Robin Sequence, and Brachydactyly: Further Confirmation of a New Syndrome

Fiorella Gurrieri, Gioacchino Scarano, Livia Garavelli, Matteo Della Monica, Fortunato Lonardo, Domenico Cuda, Giacomo Banchini, John M. Opitz, Giovanni Neri

Research output: Contribution to journalArticlepeer-review

Abstract

Recently we reported two sibs, brother and sister, with a new multiple congenital anomalies/mental retardation (MCA/MR) syndrome characterized by mild to moderate psychomotor delay, Robin sequence, distinctive facial appearance, and brachydactyly. We have subsequently observed a similar pattern of anomalies in two unrelated patients who also showed additional clinical findings. This new observation supports the existence of a new syndrome and expands the phenotypic spectrum of the condition.

Original languageEnglish
Pages (from-to)204-207
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume126 A
Issue number2
Publication statusPublished - Apr 15 2004

Keywords

  • Cleft soft palate
  • New MCA/MR syndrome
  • Robin sequence
  • Short digits

ASJC Scopus subject areas

  • Genetics(clinical)

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