Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH

Manuela Priolo; Roberto Ciccone; Irene Bova; Giovanna Campolo; Carmelo Laganà; Orsetta Zuffardi

doi:10.1016/j.ejmg.2006.10.004

Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH

Eur J Med Genet. 2007 Mar-Apr;50(2):139-43. doi: 10.1016/j.ejmg.2006.10.004. Epub 2006 Oct 28.

Authors

Manuela Priolo¹, Roberto Ciccone, Irene Bova, Giovanna Campolo, Carmelo Laganà, Orsetta Zuffardi

Affiliation

¹ Operative Unit of Medical Genetics, Hospital of Reggio Calabria Az. Ospedaliera Bianchi-Melacrino-Morelli, V Petrara Reggio Calabria, 89100 Reggio Calabria, RC, Italy. prioloma@libero.it

PMID: 17140870
DOI: 10.1016/j.ejmg.2006.10.004

Abstract

We report on a patient with mental and growth retardation, bilateral cleft lip and palate, hypertelorism, ptosis, hearing loss and mild epispadias, suggestive of Malpuech syndrome. High-resolution karyotype and microarray-CGH using an oligonucleotide array with 75Kb oligo's were normal, excluding Wolf-Hirschhorn syndrome. Long-term follow-up revealed psychiatric manifestations starting at young age.

Publication types

Case Reports
Comparative Study

MeSH terms

Abnormalities, Multiple / genetics*
Abnormalities, Multiple / pathology
Adolescent
Cleft Lip / genetics
Cleft Lip / pathology
Cleft Palate / genetics
Cleft Palate / pathology
DNA / genetics
Dwarfism / genetics*
Dwarfism / pathology
Follow-Up Studies
Humans
Hypertelorism / genetics
Hypertelorism / pathology
Intellectual Disability / genetics*
Intellectual Disability / pathology
Male
Nucleic Acid Hybridization / methods*
Oligonucleotide Array Sequence Analysis / methods*
Syndrome
Time Factors

Substances

DNA