𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Coffin-siris syndrome with normal plasma biotinidase activity

✍ Scribed by D. Bonneau; M. Berthier; D. Oriot; A. Munnich; A. B. Burlina; W. G. Sherwood

Book ID
105451366
Publisher
Springer
Year
1991
Tongue
English
Weight
108 KB
Volume
150
Category
Article
ISSN
0340-6997

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Medulloblastoma in association with the
Medulloblastoma in association with the Coffin-Siris syndrome
✍ Lynn Rogers; Jogi Pattisapu; Robert R. Smith; Paul Parker πŸ“‚ Article πŸ“… 1988 πŸ› Springer 🌐 English βš– 706 KB

An 8-year old patient with Coffin-Siris syndrome is presented, who was found to have a medulloblastoma during the evaluation of apnea and ventilator dependency. Although several cases of Dandy Walker cysts and one case of brain-stem heterotopia have been described in this rare syndrome, this is the

Apparently balanced t(1;7)(q21.3;q34) in
Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome
✍ McPherson, Elizabeth W.; Laneri, Giovanni; Clemens, Michele M.; Kochmar, Sally J πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 23 KB πŸ‘ 1 views

## Coffin -Siris syndrome is a multiple anomaly/mental retardation syndrome characterized by ''coarse'' facial appearance, hypoplastic or absent nails on the fifth digits, generalized hirsutism with sparse scalp hair, hypotonia, and developmental delay. Due to several reports of affected sibs with