Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 The Langer-Giedion-syndrome (tricho-rhino-phalangeal syndrome, type II).

Literature DB >> 91515

The Langer-Giedion-syndrome (tricho-rhino-phalangeal syndrome, type II).

Abstract

A 15-year-old girl with the Langer-Giedion-syndrome (tricho-rhinophalangeal syndrome, type II) is presented. The features are multiple exostoses, sparse, fine hair and an abnormal face and hands. X-ray examination reveals exostoses and abnormal epiphyses. In this case intelligence is normal; there is severe sensorineural deafness (60--80 dB hearing loss). The genetic aspects of the syndrome are discussed.

Entities: Disease Species

Mesh：

Year: 1979 PMID： 91515 DOI： 10.1007/BF00443205

Source DB: PubMed Journal: Eur J Pediatr ISSN： 0340-6199 Impact factor: 3.183

8 in total

1. HEREDITARY MULTIPLE EXOSTOSIS.

Authors: L SOLOMON
Journal: Am J Hum Genet Date: 1964-09 Impact factor: 11.025

2. Langer-Giedion syndrome: type II tricho-rhino-phalangeal dysplasia.

Authors: E Stoltzfus; R L Ladda; J Lloyd-Still
Journal: J Pediatr Date: 1977-08 Impact factor: 4.406

3. Langer-Giedion syndrome.

Authors: B D Hall; L O Langer; A Giedion; D W Smith; M M Cohen; R K Beals; M Brandner
Journal: Birth Defects Orig Artic Ser Date: 1974

4. Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations.

Authors: A K Poznanski; S M Garn; J M Nagy; J C Gall
Journal: Radiology Date: 1972-07 Impact factor: 11.105

5. Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases.

Authors: A Giedion; M Burdea; Z Fruchter; T Meloni; V Trosc
Journal: Helv Paediatr Acta Date: 1973-07

3 in total

The Langer-Giedion-syndrome (tricho-rhino-phalangeal syndrome, type II).

1. HEREDITARY MULTIPLE EXOSTOSIS.

2. Langer-Giedion syndrome: type II tricho-rhino-phalangeal dysplasia.

3. Langer-Giedion syndrome.

4. Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations.

5. Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases.

6. [Peripheral dysostosis (PD)--a collective concept].

7. Tricho-rhino-phalangeal syndrome.

8. [Tricho-rhino-phalangeal syndrome].

1. Terminal or interstitial deletion in chromosome 8 long arm in Langer-Giedion syndrome (TRP II syndrome)?

2. Langer-Giedion syndrome with and without del 8q. assignment of critical segment to 8q23.

3. Langer-Giedion syndrome, in a child with complex structural aberration of chromosome 8.