Lujan-Fryns Syndrome Phenotype with Autism-Like Behavior and Atypical Psychotic Symptoms: Case Report

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Genis B., Sahin F., COŞAR B.

TURK PSIKIYATRI DERGISI, cilt.31, sa.3, ss.216-220, 2020 (SSCI) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 31 Sayı: 3
  • Basım Tarihi: 2020
  • Doi Numarası: 10.5080/u23940
  • Dergi Adı: TURK PSIKIYATRI DERGISI
  • Derginin Tarandığı İndeksler: Social Sciences Citation Index (SSCI), Scopus, Central & Eastern European Academic Source (CEEAS), EMBASE, MEDLINE, Psycinfo, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.216-220
  • Anahtar Kelimeler: Lujan Fryns Syndrome, psychotic disorders, autism, MED 12, delusion, Fragile X syndrome, LINKED MENTAL-RETARDATION, MARFANOID HABITUS, FEATURES, PATIENT, VARIANT
  • Kocaeli Üniversitesi Adresli: Evet

Özet

Lujan-Fryns Syndrome (LFS) is defined as a set of symptoms including mild-moderate mental retardation, marfanoid appearance, hypotonia at birth, hypernasal speech, characteristic craniofacial appearance and normal testis size. The frequency of the syndrome is not known thus the information obtained is solely based on case reports. Hereby, we present a patient with LFS diagnosis.