XXXXY Syndrome 1
General: 49 chromosome anomaly; characterized by mental retardatio 828b13i n; hypoplastic male genitalia; proximal radioulnar synostosis.
Ocular: Upward slanting of palpebral fissures; strabismus; hypertelorism.
Clinical: Microcephaly; mongoloid facies; high-arched palate; cubitus valgus; in-curving fifth fingers and toes; depressed nasal bridge; nasal speech; prominent lower lip; broad chin; round face conuration; small chest; depressed sternum; wide-spaced nipples; genu valgum; flat feet; no facial or pubic hair; small testes; poor scrotal development; girdle obesity; tremor; excessive dribbling; withdrawal; irritability; proximal radioulnar synostosis; vertebral anomalies; parkinsonism.
Hecht F. Observation on the natural history of 49 XXXXY individuals. Am J Med Genet 1982; 8:220.
Singh TH, Rajkowa S. 49 XXXXY chromosome anomaly: an unusual variant of Klinefelter's syndrome. Br J Psychiatry 1986; 148:209-210.
NARP Syndrome [...] |
Hansen Disease (Leprosy) 5 [...] |
Carotid Artery Syndrome (Carotid Vascular Insufficiency Syndrome; Ocular Ischemic Syndrome) 200 General: Causes include mi [...] |
Copyright © 2010 - 2024
: eSanatos.com - Reproducerea, chiar si partiala, a materialelor de pe acest site este interzisa!
Informatiile medicale au scop informativ si educational. Ele nu pot inlocui consultul medicului si nici diagnosticul stabilit in urma investigatiilor si analizelor medicale la un medic specialist.
Termeni si conditii - Confidentialitatea datelor - Contact
Despre diseases |
| Alte sectiuni |
|
Ai o problema medicala? |
