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

• Published in: European journal of medical genetics 2007-03, Vol.50 (2), p.139-143
• Main Authors: Priolo, Manuela, Ciccone, Roberto, Bova, Irene, Campolo, Giovanna, Laganà, Carmelo, Zuffardi, Orsetta
• Format: Article
• Language: English
• Subjects: Abnormalities, Multiple - genetics; Abnormalities, Multiple - pathology; Adolescent; Biological and medical sciences; Cleft Lip - genetics; Cleft Lip - pathology; Cleft lip/palate; Cleft Palate - genetics; Cleft Palate - pathology; DNA - genetics; Dwarfism - genetics; Dwarfism - pathology; Facial bones, jaws, teeth, parodontium: diseases, semeiology; Follow-Up Studies; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genetics of eukaryotes. Biological and molecular evolution; Hearing loss; Humans; Hypertelorism - genetics; Hypertelorism - pathology; Intellectual Disability - genetics; Intellectual Disability - pathology; Male; Malpuech syndrome; Medical Education; Medical genetics; Medical sciences; Microarray-CGH analysis; Molecular and cellular biology; Non tumoral diseases; Nucleic Acid Hybridization - methods; Oligonucleotide Array Sequence Analysis - methods; Otorhinolaryngology. Stomatology; Syndrome; Time Factors
• ISSN: 1769-7212; 1878-0849
• 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 75 Kb oligo's were normal, excluding Wolf–Hirschhorn syndrome. Long-term follow-up revealed psychiatric manifestations starting at young age.