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 |