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.
journal_name
Eur J Med Genetjournal_title
European journal of medical geneticsauthors
Priolo M,Ciccone R,Bova I,Campolo G,Laganà C,Zuffardi Odoi
10.1016/j.ejmg.2006.10.004subject
Has Abstractpub_date
2007-03-01 00:00:00pages
139-43issue
2eissn
1769-7212issn
1878-0849pii
S1769-7212(06)00104-2journal_volume
50pub_type
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