๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Carey-Fineman-Ziter (CFZ) syndrome: Report on affected sibs

โœ Scribed by Ryan, Anna; Marshall, Tom; FitzPatrick, David R.


Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
24 KB
Volume
82
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19990115)82:2<110::aid-ajmg2>3.0.co;2-o

No coin nor oath required. For personal study only.

โœฆ Synopsis


We describe a sib pair with craniofacial anomalies, micrognathia, Mo ยจbius sequence, generalised myopathy, relative macrocephaly, and developmental delay. They appear to have the Carey-Fineman-Ziter syndrome (MIM 254940), which has been reported in only four children, a sib pair and two sporadic cases. This report on an additional affected brother and sister pair supports autosomal inheritance as the likely cause. These cases also confirm that scoliosis, talipes equinovarus, and a non-specific primary myopathy are important manifestations of Carey-Fineman-Ziter syndrome.


๐Ÿ“œ SIMILAR VOLUMES


Pacman dysplasia: Report of two affected
โœ Wilcox, William R.; Lucas, Barbie C.; Loebel, Barbara; Bachman, Ronald P.; Lachm ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 33 KB

We report on two sib fetuses with radiological and morphological findings similar to

cover
โœ A. J. Harlem ๐Ÿ“‚ Fiction ๐Ÿ“… 2020 ๐ŸŒ English โš– 84 KB ๐Ÿ‘ 2 views
cover
โœ Charlie Richards ๐Ÿ“‚ Fiction ๐ŸŒ English โš– 98 KB ๐Ÿ‘ 1 views
Fireman's Carry
โœ Eli Easton ๐Ÿ“‚ Fiction ๐Ÿ“… 2021 ๐Ÿ› Pinkerton Road LLC ๐ŸŒ English โš– 42 KB ๐Ÿ‘ 1 views
Karsch-Neugebauer syndrome in two sibs w
โœ Wong, S.C. ;Cobben, J.M. ;Hiemstra, S. ;Robinson, P.H. ;Heeg, M. ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 20 KB ๐Ÿ‘ 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

cover
โœ Harry Shannon ๐Ÿ“‚ Fiction ๐Ÿ“… 2014 ๐Ÿ› JournalStone Publishing ๐ŸŒ English โš– 161 KB ๐Ÿ‘ 2 views

The Double Down series continues with two novellas that explore very different post-apocalyptic worlds. Harry Shannon's Biters is classic noir set at the end of the world. Buck Ryan can't get enough of Sarah, but she's had more than enough of her husband. To win the girl for good, all Ryan has to do