𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Bardet-Biedl syndrome with preaxial polydactyly

✍ Scribed by Manouvier-Hanu, S.; Moerman, A.; Lefevre, J.


Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
2 KB
Volume
84
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19990507)84:1<75::aid-ajmg15>3.0.co;2-l

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Thumb/hallux duplication and preaxial po
✍ Orioli, IοΏ½da M.; Castilla, Eduardo E. πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 38 KB

It was recently shown that hand postaxial polydactyly differed from foot postaxial polydactyly. The aim of this work was to test whether thumb and hallux duplication also had different clinical and epidemiological characteristics, depending on limb involvement. We studied 920 newborn infants with fi

Trisomy 2p syndrome: A fetus with anence
✍ Hahm, Geoffrey K.; Barth, Rolf F.; Schauer, Gail M.; Reiss, Rosemary; Opitz, Joh πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 18 KB

We report on a male fetus with partial trisomy 2p21-2pter and monosomy 15q26-15qter due to t(2,15)(p21;q26). This fetus had a typical trisomy 2p phenotype including minor facial anomalies, musculoskeletal defects and two unusual findings: polydactyly and anencephaly. The observation of anencephaly a

Sibs with anencephaly, anophthalmia, cle
✍ Christensen, Benedicte; Blaas, Harm-Gerd; Isaksen, Christina Vogt; Roald, Borghi πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 15 KB

Major characteristics of the acrocallosal syndrome include severe mental retardation, agenesis or hypoplasia of the corpus callosum, and polydactyly of fingers and toes. In the past few years, anencephaly has also been noted, together with other midline defects. We report on a nonconsanguineous, Nor

Associated anomalies in individuals with
✍ Castilla, Eduardo E.; Lugarinho, Regina; Dutra, Maria da GraοΏ½a; Salgado, Leonard πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 75 KB πŸ‘ 2 views

An epidemiological analysis of the association of polydactyly with other congenital anomalies was performed in 5,927 consecutively born polydactyly cases. They were grouped into three categories: duplicated fifth digit, duplicated first digit, and rare polydactylies; also into isolated or associated

Canadian Bardet-Biedl syndrome family re
✍ Young, Terry-Lynn; Woods, Mike O.; Parfrey, Patrick S.; Green, Jane S.; O'Leary, πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 34 KB πŸ‘ 1 views

There are at least five distinct Bardet-Biedl syndrome (BBS) loci, four of which have been mapped: 11q (BBS1), 16q (BBS2), 3p (BBS3), and 15q (BBS4). A comparative study of the three Arab-Bedouin kindreds used to map the BBS2, BBS3, and BBS4 loci suggests that the variability in the number and sever