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