Marshall-Smith Syndrome 919j95j 919j95j 919j95j 919j95j 919j95j 7
General: Rare congenital condition with advanced bone age, facial anomalies, and relative failure to thrive.
Ocular: Hypertelorism, protuberant eyes with shallow orbits.
Clinical: Feeding and respiratory difficulties; developmental delay; advanced bone age; characteristic facies.
Summers DA, Cooper HA, Butler MG. Marshall-Smith syndrome: case report of a newborn male and review of the literature. Clin Dysmorphol 1999; 8:207-210.
Williams DK, et al. Marshall-Smith syndrome: the expanding phenotype. J Med Genet 1997; 34:842-845.
Yoder CC, et al. Marshall Smith syndrome: further delineation. South Med J 1988; 81:1297-l300.
Chronic Granulomatous Disease of Childhood [...] |
Bacillus Cereus [...] |
Wolf Syndrome (Monosomy 4 Partial Syndrome; Chromosome 4 Partial Deletion Syndrome; Hirschhorn-Cooper 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? |
