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 journalArticle

1 Citation (Scopus)

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

Fingerprint

Pierre Robin Syndrome
Brachydactyly
Intellectual Disability
Siblings
Observation

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Gurrieri, F., Scarano, G., Garavelli, L., Della Monica, M., Lonardo, F., Cuda, D., ... Neri, G. (2004). Mental Retardation, Robin Sequence, and Brachydactyly: Further Confirmation of a New Syndrome. American Journal of Medical Genetics, 126 A(2), 204-207.

Mental Retardation, Robin Sequence, and Brachydactyly : Further Confirmation of a New Syndrome. / Gurrieri, Fiorella; Scarano, Gioacchino; Garavelli, Livia; Della Monica, Matteo; Lonardo, Fortunato; Cuda, Domenico; Banchini, Giacomo; Opitz, John M.; Neri, Giovanni.

In: American Journal of Medical Genetics, Vol. 126 A, No. 2, 15.04.2004, p. 204-207.

Research output: Contribution to journalArticle

Gurrieri, F, Scarano, G, Garavelli, L, Della Monica, M, Lonardo, F, Cuda, D, Banchini, G, Opitz, JM & Neri, G 2004, 'Mental Retardation, Robin Sequence, and Brachydactyly: Further Confirmation of a New Syndrome', American Journal of Medical Genetics, vol. 126 A, no. 2, pp. 204-207.
Gurrieri F, Scarano G, Garavelli L, Della Monica M, Lonardo F, Cuda D et al. Mental Retardation, Robin Sequence, and Brachydactyly: Further Confirmation of a New Syndrome. American Journal of Medical Genetics. 2004 Apr 15;126 A(2):204-207.
Gurrieri, Fiorella ; Scarano, Gioacchino ; Garavelli, Livia ; Della Monica, Matteo ; Lonardo, Fortunato ; Cuda, Domenico ; Banchini, Giacomo ; Opitz, John M. ; Neri, Giovanni. / Mental Retardation, Robin Sequence, and Brachydactyly : Further Confirmation of a New Syndrome. In: American Journal of Medical Genetics. 2004 ; Vol. 126 A, No. 2. pp. 204-207.
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