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Table 3 Review of published case reports

From: Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature

  Age at diagnosis Facial features Skeletal abnomalities Stature Psychomotor developpement Behavioral features Testicular insufficiency Cytogenetic analysis
Present case 8 years Macrocephaly, turricephaly and brachycephaly, high forehead, long face, oedematous eyelids, narrow palpebral fissures, bulbous nasal tip, thick lips, thick helix mild clinodactyly of the fifth fingers Tall Mild ID Speech delay ASD Anxiety Sleep Disorders   Mosaicism 49, XYYYY (85%), 45,X0 (15%)
[23] 30 years Proeminent forehead and supraorbital ridges Radioulnar synososis clinodactyly of the fifth fingers Normal Range Severe ID Violent behavior Azoospermia 49, XYYYY
[24] 14 months Low set ears Micrognatia Trigonocephaly Epicanthal folds Palate hight arched Radio Ulnar synostosis Scoliosis brachyclinodactyly Normal Range Psychomotor retardation Speech delay Impulsivity Low frustration threshold Increased basal gonadotropins 49, XYYYY
[33] 6 years Low set ears Bilateral « lop ears » Turricephaly Tall Speech delay Low frustration threshold Mild social interaction disorders Attention deficit   49, XYYYY
[25] 15 years Bilateral Cataract Bradycardia Clinodactyly of the fifth fingers Normal Range Psychomotor retardation   Absence of spermatogenesis Mosaicism 45,X/49, XYYYY = 88%
[22] 8 days Micrognatia Bulbous nasal tip Low set ears Palate hight arched Radioulnar synostosis Clinodactyly scoliosis Normal Range ID hypotonia    Mosaicism 49, XYYYY (96,7%)
[20] 9 years   Joint laxity scoliosis Short Mild ID Impulsivity   Structural rearrangement 45,X/47,X + 2 Iso dic Y
[17] 2 years Transient Atrioseptal defect Bilateral Radioulnar synostosis clinodactyly of the fifth fingers Short Short Mild ID Langage delay   Decreased testosterone Structural rearrangement