Literature DB >> 16758186

Greater trochanteric stippling in trisomy 7p.

Justin R Wilde1, Rita L Teele, Salim Aftimos.   

Abstract

Trisomy 7p is a rare condition involving partial or complete duplication of the short arm of chromosome 7. Radiological features include large fontanelles, widened sutures, dolicocephaly and asymmetrical skull. We report a new radiological finding of punctate calcifications in the region of femoral trochanters. This finding has not previously been reported with chromosome 7p duplication.

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Year:  2006        PMID： 16758186     DOI： 10.1007/s00247-006-0179-1

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


  8 in total

1.  Punctate epiphyses associated with Turner syndrome.

Authors:  S C Morrison
Journal:  Pediatr Radiol       Date:  1999-06

2.  Pure partial 7p trisomy including the TWIST, HOXA, and GLI3 genes.

Authors:  A Mégarbané; M Le Lorc'H; H Elghezal; G Joly; N Souraty; L Samaras; M Prieur; M Vekemans; C Turleau; S P Romana
Journal:  J Med Genet       Date:  2001-03       Impact factor: 6.318

3.  Trisomy 7p resulting from 7p15;9p24 translocation: report of a new case and review of associated medical complications.

Authors:  C Kozma; B R Haddad; J M Meck
Journal:  Am J Med Genet       Date:  2000-04-10

4.  Punctate calcification of the epiphyses, visceral malformations, and craniofacial dysmorphism in a female baby.

Authors:  A Slavotinek; H Kingston
Journal:  J Med Genet       Date:  2000-10       Impact factor: 6.318

Review 5.  Further delineation of 7p trisomy. Case report and review of literature.

Authors:  R Pallotta; L Dalprà; P Fusilli; O Zuffardi
Journal:  Ann Genet       Date:  1996

Review 6.  Punctate epiphyses: a radiological sign not a disease.

Authors:  A K Poznanski
Journal:  Pediatr Radiol       Date:  1994

Review 7.  Trisomy 7p: report of 2 patients and literature review.

Authors:  Y H Arens; A Toutain; J J Engelen; J P Offermans; A J Hamers; J J Schrander; C F Pulles-Heintzberger; C T Schrander-Stumpel
Journal:  Genet Couns       Date:  2000

8.  Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome?

Authors:  G R Mortier; L M Messiaen; M Espeel; K J Smets; B D Vanzieleghem; F Roels; A M De Paepe
Journal:  Pediatr Radiol       Date:  1998-10
  8 in total

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