✦ LIBER ✦

Melorheostosis in a family with autosomal dominant osteopoikilosis

✍ Scribed by Nevin, Norman C.; Thomas, Paul S.; Davis, Richard I.; Cowie, G. Harry

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 31 KB
Volume: 82
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990219)82:5<409::aid-ajmg10>3.0.co;2-2

No coin nor oath required. For personal study only.

✦ Synopsis

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 autosomal dominant trait. Mixed sclerosing bone dysplasia in a family with autosomal dominant osteopoikilosis raises the possibility that the two bone disorders may be related. This family and that of Butkus et al.

📜 SIMILAR VOLUMES

Melorheostosis in a patient with familia

Melorheostosis in a patient with familial osteopoikilosis

✍ Butkus, Christine E.; Michels, Virginia V.; Lindor, Noralane M.; Cooney, William 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 20 KB 👁 1 views

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 s

Familial chordoma with probable autosoma

Familial chordoma with probable autosomal dominant inheritance

✍ Stepanek, Jan; Cataldo, Steven A.; Ebersold, Michael J.; Lindor, Noralane M.; Je 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 10 KB 👁 1 views

## To the Editor: Chordomas are rare, clinically malignant tumors derived from notochordal remnants which occur along the length of the spinal axis predominantly in the sphenooccipital, vertebral, and sacrococcygeal regions. They are characterized by slow growth, local destruction of bone, extensio

Autosomal dominant hypohidrotic ectoderm

Autosomal dominant hypohidrotic ectodermal dysplasia in a large family

✍ Aswegan, Andrew L.; Josephson, Kevin D.; Mowbray, Rodney; Pauli, Richard M.; Spr 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 53 KB 👁 2 views

We have studied an autosomal dominant hypohidrotic ectodermal dysplasia in 38 individuals over six generations in one family. Thirty-two affected individuals in four generations are still living. Questionnaire responses were received from 21 of the affected relatives and some of the individuals were

Genetic anticipation in a large family w

Genetic anticipation in a large family with pure autosomal dominant hereditary spastic paraplegia

✍ Thurmon, T.F.; He, Ching; Haskell, Carroll; Thorpe, Patricia; Thurmon, S.G.; Ros 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 26 KB 👁 1 views

We have reinvestigated a large kindred identified over 25 years ago segregating for a form of pure autosomal dominant hereditary spastic paraplegia (HSP). We have examined additional relatives in order to refine the clinical and genetic characteristics of this disorder, and performed an analysis to

Mild autosomal dominant hypophosphatasia

Mild autosomal dominant hypophosphatasia: In utero presentation in two families

✍ Moore, Cynthia A.; Curry, Cynthia J.R.; Henthorn, Paula S.; Smith, John A.; Smit 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 35 KB

We describe four pregnancies in two families in which mild hypophosphatasia, apparently transmitted as an autosomal dominant trait, manifested in utero as severe long bone bowing. Postnatally, there was spontaneous improvement of the skeletal defects. Recognition of this presentation for hypophospha

Autosomal dominant transmission of famil

Autosomal dominant transmission of familial laterality defects

✍ Casey, B.; Cuneo, B. F.; Vitali, C.; van Hecke, H.; Barrish, J.; Hicks, J.; Ball 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 18 KB 👁 1 views

Heterotaxy results from failure to establish normal left-right asymmetry during embryonic development. Most familial cases are thought to be autosomal recessive. We have identified a family in which 4 individuals from 3 generations manifest laterality defects. Twenty-five family members have been ex