๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Brief report: Two sisters with Rett syndrome

โœ Scribed by Charles -A. Haenggeli; Jaime Moura-Serra; Celia D. DeLozier-Blanchet

Publisher
Springer US
Year
1990
Tongue
English
Weight
521 KB
Volume
20
Category
Article
ISSN
1573-3432

No coin nor oath required. For personal study only.

๐Ÿ“œ SIMILAR VOLUMES

Two sisters with Escobar syndrome
Two sisters with Escobar syndrome
โœ Spranger, Stephanie ;Spranger, Matthias ;Meinck, Hans-Michael ;Tariverdian, Ghol ๐Ÿ“‚ Article ๐Ÿ“… 1995 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 455 KB ๐Ÿ‘ 2 views

We report on 2 sisters with an autosomalrecessive multiple pterygium syndrome, type Escobar, consisting of multiple pterygia with severe contractures, short stature, and minor facial and external genital anomalies. The striking finding was severe muscular atrophy. We speculate that a neuromuscular d

Two sisters with Toriello-Carey syndrome
Two sisters with Toriello-Carey syndrome
โœ Chinen, Yasutsugu; Tohma, Takaya; Izumikawa, Yoshinori; Taketomi, Hirohisa; Iha, ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 12 KB ๐Ÿ‘ 2 views

Toriello-Carey syndrome comprises agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, Robin sequence, abnormally shaped ears, cardiac defect, and hypotonia. We describe two Japanese sisters with a Toriello-Carey syndrome whose phenotypes were as