𝔖 Bobbio Scriptorium
✦   LIBER   ✦

SAPHO osteomyelitis and sarcoid dermatitis in a patient with DiGeorge syndrome

✍ Scribed by Harumi Jyonouchi; Kenneth W. Lien; Helen Aguila; Gaetano G. Spinnato; Sanjeev Sabharwal; Beth A. Pletcher

Publisher
Springer
Year
2006
Tongue
English
Weight
108 KB
Volume
165
Category
Article
ISSN
0340-6997

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Unbalanced 15;22 translocation in a pati
Unbalanced 15;22 translocation in a patient with manifestations of DiGeorge and velocardiofacial syndrome
✍ Jaquez, Marisela; Driscoll, Deborah A.; Li, Mengrong; Emanuel, Beverly S.; Herna πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 654 KB

We report on an 8-year-old girl with an unbalanced 15;22 translocation and manifestations of DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and other abnormalities. The main manifestations of our patient were feeding difficulties, respiratory infections, short stature, peculiar face with

Patient with a 22q11.2 deletion with no
Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR)
✍ McQuade, Leon; Christodoulou, John; Budarf, Marcia; Sachdev, Rani; Wilson, Mered πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 39 KB πŸ‘ 3 views

The apparent lack of genotype/phenotype correlation in patients with the DiGeorge anomaly and velocardiofacial syndrome (DGA/VCFS; the "22q11 deletion syndrome") indicates a complex genetic condition. Most cases, whatever the phenotype, have a 1.5-3 ## Mb chromosomal deletion that includes the mini