Literature DB >> 1408447

Occipital horn syndrome. Additional radiographic findings in two new cases.

T E Herman1, W H McAlister, A Boniface, M P Whyte.   

Abstract

Occipital horn syndrome, a rare genetic disorder of copper metabolism, was recognized in 2 unrelated patients. Radiographs of these patients at various ages allowed confirmation of previously described radiographic findings. In addition, new radiographic manifestations were encountered. These pathognomonic radiographic findings are presented and the clinical and biochemical features of occipital horn syndrome are reviewed.

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Year:  1992        PMID： 1408447     DOI： 10.1007/bf02016258

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


  6 in total

1.  Skeletal dysplasia, occipital horns, diarrhea and obstructive uropathy- a new hereditary syndrome.

Authors:  S G Lazoff; J J Rybak; B R Parker; L Luzzatti
Journal:  Birth Defects Orig Artic Ser       Date:  1975

2.  Type IX Ehlers-Danlos syndrome and Menkes syndrome: the decrease in lysyl oxidase activity is associated with a corresponding deficiency in the enzyme protein.

Authors:  H Kuivaniemi; L Peltonen; K I Kivirikko
Journal:  Am J Hum Genet       Date:  1985-07       Impact factor: 11.025

3.  X-linked cutis laxa: defective cross-link formation in collagen due to decreased lysyl oxidase activity.

Authors:  P H Byers; R C Siegel; K A Holbrook; A S Narayanan; P Bornstein; J G Hall
Journal:  N Engl J Med       Date:  1980-07-10       Impact factor: 91.245

4.  International Nosology of Heritable Disorders of Connective Tissue, Berlin, 1986.

Authors:  P Beighton; A de Paepe; D Danks; G Finidori; T Gedde-Dahl; R Goodman; J G Hall; D W Hollister; W Horton; V A McKusick
Journal:  Am J Med Genet       Date:  1988-03

5.  Type IX Ehlers-Danlos syndrome. A new variant with pathognomonic radiographic features.

Authors:  D J Sartoris; L Luzzatti; D D Weaver; J D Macfarlane; D W Hollister; B R Parker
Journal:  Radiology       Date:  1984-09       Impact factor: 11.105

6.  Abnormal copper metabolism and deficient lysyl oxidase activity in a heritable connective tissue disorder.

Authors:  H Kuivaniemi; L Peltonen; A Palotie; I Kaitila; K I Kivirikko
Journal:  J Clin Invest       Date:  1982-03       Impact factor: 14.808
  6 in total
  3 in total

1.  New insight into clinical heterogeneity and inheritance diversity of FBLN5-related cutis laxa.

Authors:  Jalal Gharesouran; Hassan Hosseinzadeh; Soudeh Ghafouri-Fard; Yalda Jabbari Moghadam; Javad Ahmadian Heris; Amir Hossein Jafari-Rouhi; Mohammad Taheri; Maryam Rezazadeh
Journal:  Orphanet J Rare Dis       Date:  2021-01-28       Impact factor: 4.123

Review 2.  Menkes disease: what a multidisciplinary approach can do.

Authors:  Rahul Ojha; Asuri N Prasad
Journal:  J Multidiscip Healthc       Date:  2016-08-17

3.  Cutis laxa presenting as recurrent ileus.

Authors:  Shishira Bharadwaj; Prakash Shrestha; Tushar D Gohel; Maninder Singh
Journal:  Gastroenterol Rep (Oxf)       Date:  2014-07-09
  3 in total

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