Baraitser-Winter Syndrome
General: X-linked mental retardation, macrosomia, macrocephaly, and obesity syndrome.
Ocular: Ptosis; hypertelorism; down-slanting 232i88c palpebral fissures.
Clinical: May be confused with Noonan syndrome; phenotypic features appear to be variable.
Megarbana A, Le Merrer M, el Kallab K. Ptosis, down-slanting palpebral fissures, hypertelorism, seizures and mental retardation: a possible new MCA/MR syndrome. Clin Dysmorphol
Monteiro de Pina-Neto J, de Molfetta GA. The X-linked mental retardation, macrosomia, macrocephaly and obesity syndrome (Baraitser syndrome): a Brazilian case [Letter]. Clin Dysmorphol 1998; 7:233-234.
Verloes A. Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome? J Med Genet 1993; 30:425-426.
Bartsocas-Papas Syndrome [...] |
Retinopathy, Pigmentary, and Mental Retardation (Mirhosseini-Holmes-Walton Syndrome) General: Autosomal recessive; this disorder may b [...] |
Hypoproteinemia Syndrome (plurideficiency Syndrome; Kwashiorkor Syndrome; Malnutrition Syndrome) [...] |
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? |
