๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Melorheostosis in a patient with familial osteopoikilosis

โœ Scribed by Butkus, Christine E.; Michels, Virginia V.; Lindor, Noralane M.; Cooney, William P.

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
20 KB
Volume
72
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19971003)72:1<43::aid-ajmg9>3.0.co;2-w

No coin nor oath required. For personal study only.

โœฆ Synopsis

We report on a 40-year-old woman with melorheostosis who also had radiographic findings of generalized osteopoikilosis. Three of her sibs have osteopoikilosis, but none of them have melorheostosis. Several cases of "mixed sclerosing bone dysplasia" have been described previously, and all have been sporadic. Isolated melorheostosis without osteopoikilosis is also generally a sporadic condition, but osteopoikilosis has been described as an autosomal-dominant trait. The finding of mixed sclerosing bone dysplasia in a family with osteopoikilosis suggests that the melorheostotic component of this disorder may be due to a second mutation at the same locus that causes isolated familial osteopoikilosis.

๐Ÿ“œ SIMILAR VOLUMES

Melorheostosis in a family with autosoma
Melorheostosis in a family with autosomal dominant osteopoikilosis
โœ Nevin, Norman C.; Thomas, Paul S.; Davis, Richard I.; Cowie, G. Harry ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 31 KB ๐Ÿ‘ 2 views

We describe a 19-year-old woman with melorheostosis and osteopoikilosis (mixed sclerosing bone dysplasia). Her sister and mother had osteopoikilosis, but no evidence of melorheostosis. Isolated melorheostosis and melorheostosis with osteopoikilosis are sporadic disorders. Osteopoikilosis is an autos

Trisomy 8 mosaicism in a with patient te
Trisomy 8 mosaicism in a with patient tetraamelia
โœ G๏ฟฝtze, Annemarie; Krebs, Petra; Stumm, Markus; Wieacker, Peter; Allhoff, Ernst P ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 8 KB ๐Ÿ‘ 1 views

## Trisomy 8 Mosaicism in a Patient With Tetraamelia To the Editor: Trisomy 8 is detected in 0.8% of spontaneous abortions . In neoplasias, especially in myeloid leukaemias, trisomy 8 is a frequent somatic aberration . In liveborn infants trisomy 8 almost always is a mosaic condition. The frequen

cover
A Family With Daddy
โœ Shelby Horne ๐Ÿ“‚ Fiction ๐ŸŒ English โš– 17 KB ๐Ÿ‘ 2 views

After her mother leaves them both, Bridgette finds comfort in the arms of her handsome and lonely father. He fears that she will leave him too, someday. How can she promise him that she'll stay forever? It's time to try stepping into her mother's place so she can start a family of their own, by gett

cover
A Family With Daddy
โœ Horne, Shelby ๐Ÿ“‚ Fiction ๐Ÿ“… 2019 ๐ŸŒ English โš– 17 KB ๐Ÿ‘ 1 views

After her mother leaves them both, Bridgette finds comfort in the arms of her handsome and lonely father. He fears that she will leave him too, someday. How can she promise him that she'll stay forever? It's time to try stepping into her mother's place so she can start a family of their own, by gett

Mosaic trisomy 7 in a patient with pigme
Mosaic trisomy 7 in a patient with pigmentary abnormalities
โœ Verghese, S.; Newlin, A.; Miller, M.; Burton, B. K. ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 17 KB ๐Ÿ‘ 1 views

## Somatic chromosomal mosaicism may present as isolated pigmentary abnormalities or multiple congenital anomalies with mental retardation. Pigmentary lesions are visually dramatic and are differentiated based on appearance when the underlying pathogenesis is not known. It is now clear that mosaicis