Berna Aygün, Nur Seda Gülcü Üstün

‘A child with Malpuech–Michels–Mingarelli–Carnevale syndrome and ADHD and major depressive disorder’

  • Biological Psychiatry
  • Psychiatry and Mental health
  • Genetics (clinical)
  • Genetics

Malpuech–Michels–Mingarelli–Carnevale (3MC) syndrome, is a rare genetic condition resulting from the combination of four autosomal recessive syndromes which were classified as separate syndromes earlier. 3MC syndrome may be accompanied by a range of other conditions including cleft lips and palate, blepharophimosis, blepharoptosis, downward-sloping palpebral fissures, hypertelorism, facial dysmorphism such as high arched eyebrows, growth retardation, hearing impairment, genital anomalies, elongated coccyx, caudal appendage, radioulnar synostosis and skeletal conditions such as craniosynostosis. The prominent causes of 3MC syndrome include homozygous mutations in the MASP1, COLEC10, or COLEC11 genes. Few cases with 3MC syndrome have been reported in the literature. Here we present a case of 11-year-old girl with 3 MC syndrome in comorbidity with attention deficit hyperactivity disorder, oppositional defiant disorder, and major depressive disorder.

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