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Literature DB >> 3703607

Distinctive skeletal dysplasia in Cockayne syndrome.

M Cirillo Silengo, P Franceschini, R Bianco, M Biagioli, L Pastorin, N Vista, A Baldassar, L Benso.

Abstract

Cockayne syndrome is a well-known autosomal recessive form of dwarfism with senile-like appearance. Skeletal changes such as flattening of vertebral bodies, ivory epiphyses and thickening of cranial vault, have been observed in some patients with this condition. We describe here a 5.5-year-old girl with the typical clinical signs of Cockayne syndrome and a distinctive form of bone dysplasia with major involvement of the spine.

Entities: Disease Species

Mesh：

Year: 1986 PMID： 3703607 DOI： 10.1007/bf02456305

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

7 in total

1. Dwarfism with retinal atrophy and deafness.

Authors: E A Cockayne
Journal: Arch Dis Child Date: 1936-02 Impact factor: 3.791

2. Cockayne's syndrome. Roentgen findings.

Authors: W Riggs; J Seibert
Journal: Am J Roentgenol Radium Ther Nucl Med Date: 1972-11

3. Identical male twins and brother with Cockayne syndrome.

Authors: C S Houston; W A Zaleski; B Rozdilsky
Journal: Am J Med Genet Date: 1982-10

4. Cockayne syndrome.

Authors: E D Levinson; A W Zimmerman; M L Grunnet; R A Lewis; T J Spackman
Journal: J Comput Assist Tomogr Date: 1982-12 Impact factor: 1.826

5. Cockayne's syndrome. A report of three cases.

Authors: D J Alton; P McDonald; B J Reilly
Journal: Radiology Date: 1972-02 Impact factor: 11.105

6. Normal pressure hydrocephalus. Recognition and relationship to neurological abnormalities in Cockayne's syndrome.

Authors: R A Brumback; F W Yoder; A D Andrews; G L Peck; J H Robbins
Journal: Arch Neurol Date: 1978-06

7. Peripheral and central myelinopathy in Cockayne's syndrome. Report of 3 siblings.

Authors: M G Smits; F J Gabreëls; W O Renier; E M Joosten; A A Gabreëls-Festen; H J ter Laak; A J Pinckers; G C Hombergen; S L Notermans; H O Thijssen
Journal: Neuropediatrics Date: 1982-08 Impact factor: 1.947

7 in total

5 in total

Distinctive skeletal dysplasia in Cockayne syndrome.

1. Dwarfism with retinal atrophy and deafness.

2. Cockayne's syndrome. Roentgen findings.

3. Identical male twins and brother with Cockayne syndrome.

4. Cockayne syndrome.

5. Cockayne's syndrome. A report of three cases.

6. Normal pressure hydrocephalus. Recognition and relationship to neurological abnormalities in Cockayne's syndrome.

7. Peripheral and central myelinopathy in Cockayne's syndrome. Report of 3 siblings.

1. Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome.

2. Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays.

3. Central osteosclerosis with trichothiodystrophy.

4. Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.

5. Are parents of children with Cockayne syndrome manifesting features of the disorder?: Case reports.