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Literature DB >> 7700718

Punctate epiphyses: a radiological sign not a disease.

Abstract

Punctate epiphyses are caused by a diverse group of conditions. They may be an inherited part of certain bone dysplasias or an incidental finding occurring occasionally in various disorders. The pattern of the puncta together with other radiologic findings aid in making the correct diagnosis.

Entities: Disease

Mesh：

Substances：
Warfarin

Year: 1994 PMID： 7700718 DOI： 10.1007/bf02011908

Source DB: PubMed Journal: Pediatr Radiol ISSN： 0301-0449

33 in total

1. Chondrodysplasis punctata: is maternal warfarin therapy a factor?

Authors: M H Becker; N B Genieser; M Finegold; D Miranda; T Spackman
Journal: Am J Dis Child Date: 1975-03

Review 2. Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports.

Authors: T D Wardinsky; R A Pagon; B R Powell; B McGillivray; M Stephan; J Zonana; A Moser
Journal: Clin Genet Date: 1990-08 Impact factor: 4.438

3. Generalized chondrodysplasia punctata with shortness of humeri and brachymetacarpy: humero-metacarpal (HM) type: variation or heterogeneity?

Authors: Z Borochowitz
Journal: Am J Med Genet Date: 1991-12-15

4. Heterogeneity of Chondrodysplasia punctata.

Authors: J W Spranger; J M Opitz; U Bidder
Journal: Humangenetik Date: 1971

5. Absent chondrodysplasia punctata in a male with an Xp terminal deletion involving the putative region for CDPX1 locus.

Authors: T Ogata; P Goodfellow; C Petit; P Maroteaux; N Matsuo
Journal: Am J Med Genet Date: 1993-01-01

6. Chondrodysplasia punctata, tibia-metacarpal (MT) type.

Authors: M Rittler; H Menger; J Spranger
Journal: Am J Med Genet Date: 1990-10

7. The cerebro-hepato-renal syndrome (CHRS) (Zellweger's syndrome).

Authors: A K Poznanski; J S Nosanchuk; J Baublis; J F Holt
Journal: Am J Roentgenol Radium Ther Nucl Med Date: 1970-06

8. Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion.

Authors: D Bick; C J Curry; J R McGill; D F Schorderet; R C Bux; C M Moore
Journal: Am J Med Genet Date: 1989-05

9. Chondrodysplasia punctata-23 cases of a mild and relatively common variety.

Authors: L J Sheffield; D M Danks; V Mayne; A L Hutchinson
Journal: J Pediatr Date: 1976-12 Impact factor: 4.406

10. The warfarin embryopathy: a rat model showing maxillonasal hypoplasia and other skeletal disturbances.

Authors: A M Howe; W S Webster
Journal: Teratology Date: 1992-10

12 in total

1. Greater trochanteric stippling in trisomy 7p.

Authors: Justin R Wilde; Rita L Teele; Salim Aftimos
Journal: Pediatr Radiol Date: 2006-06-07

2. Chondrodysplasia punctata and maternal systemic lupus erythematosus.

Authors: H V Toriello
Journal: J Med Genet Date: 1998-08 Impact factor: 6.318

Review 3. Brachytelephalangy with sparing of the fifth distal phalanx: a feature highly suggestive of Keutel syndrome.

Authors: Stephen F Miller
Journal: Pediatr Radiol Date: 2002-12-19

4. Maternal systemic lupus erythematosus and chondrodysplasia punctata in two sibs: phenocopy or coincidence?

Authors: N Elçioglu; C M Hall
Journal: J Med Genet Date: 1998-08 Impact factor: 6.318

Review 5. Poly-epiphyseal overgrowth: description of a previously unreported skeletal dysplasia.

Authors: Ugo E Pazzaglia; Giampiero Beluffi; Antonietta Marchi; Mauro Bozzola; Salvatore Savasta; Giovanni Bonaspetti
Journal: Pediatr Radiol Date: 2007-07-26

6. A lethal skeletal dysplasia with features of chondrodysplasia punctata and osteogenesis imperfecta: an example of Astley-Kendall dysplasia. Further delineation of a rare genetic disorder.

Authors: N Elçioglu; C M Hall
Journal: J Med Genet Date: 1998-06 Impact factor: 6.318