𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Two sibs with fibrochondrogenesis

✍ Scribed by Leeners, Brigitte ;Funk, Andreas ;Cotarelo, Christina L. ;Sauer, Itta


Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
147 KB
Volume
127A
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Two sibs with Malpuech syndrome
✍ Crisponi, Giangiorgio; Marras, Andrea Raffaele; Corrias, Adriano πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 42 KB πŸ‘ 2 views

We report on two Italian brothers with facial clefting, hypertelorism, urogenital anomalies including micropenis, shawl scrotum, hearing loss, caudal appendage, and umbilical hernia. We have evaluated the two cases as Malpuech syndrome. This is an extremely rare autosomal recessive syndrome.

Two sibs with partial trisomy 2q
✍ Barnicoat, A. J.; Abusaad, I.; Mackie, C. M.; Robards, M. F. πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 595 KB

We report on two sibs with facial anomalies

Leukonychia totalis in two sibs
✍ Frydman, Moshe ;Cohen, Hermann A. πŸ“‚ Article πŸ“… 1993 πŸ› John Wiley and Sons 🌐 English βš– 154 KB
Karsch-Neugebauer syndrome in two sibs w
✍ Wong, S.C. ;Cobben, J.M. ;Hiemstra, S. ;Robinson, P.H. ;Heeg, M. πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 20 KB πŸ‘ 2 views

We report on 2 sisters with Karsch-Neugebauer syndrome comprising split foot and split hand anomalies in association with congenital nystagmus. These sisters share a nearly identical phenotype with the 8 previously reported instances of this disorder. Although genetic heterogeneity can not be formal