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Literature DB >> 14719793

Coffin-Lowry syndrome.

Sanjeev R Ahuja¹, Shubhangi Upadhye, Hemant V Kulkarni, Madhuri V Kulkarni.

Abstract

The Coffin-Lowry syndrome is an established syndrome of severe mental and growth retardation, characteristic dysmorphic features and skeletal anomalies. The authors report a one and half year old boy with classical features of this syndrome. Early recognition of this condition is important for genetic counseling and prevention of progressive skeletal deformities.

Entities: Disease Species

Mesh：

Year: 2003 PMID： 14719793 DOI： 10.1007/bf02723830

Source DB: PubMed Journal: Indian J Pediatr ISSN： 0019-5456 Impact factor: 1.967

6 in total

1. Drop episodes in Coffin-Lowry syndrome: an unusual type of startle response.

Authors: R Caraballo; A Tesi Rocha; C Medina; N Fejerman
Journal: Epileptic Disord Date: 2000-09 Impact factor: 1.819

2. The Coffin-Lowry syndrome: a simply inherited trait comprising mental retardation, faciodigital anomalies and skeletal involvement.

Authors: S A Temtamy; J D Miller; J P Dorst; I Hussels-Maumenee; C Salinas; Y Lacassie; K R Kenyon
Journal: Birth Defects Orig Artic Ser Date: 1975

3. A new dominant gene mental retardation syndrome. Association with small stature, tapering fingers, characteristic facies, and possible hydrocephalus.

Authors: B Lowry; J R Miller; F C Fraser
Journal: Am J Dis Child Date: 1971-06

1 in total

1. Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome.

Authors: Shelli R Kesler; Richard J Simensen; Kytja Voeller; Fatima Abidi; Roger E Stevenson; Charles E Schwartz; Allan L Reiss
Journal: Neurogenetics Date: 2007-02-22 Impact factor: 2.660

1 in total

Coffin-Lowry syndrome.

1. Drop episodes in Coffin-Lowry syndrome: an unusual type of startle response.

2. The Coffin-Lowry syndrome: a simply inherited trait comprising mental retardation, faciodigital anomalies and skeletal involvement.

3. A new dominant gene mental retardation syndrome. Association with small stature, tapering fingers, characteristic facies, and possible hydrocephalus.

4. The Coffin-Lowry syndrome. Experience from four centres.

5. Cardiac involvement in Coffin-Lowry syndrome.

6. Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.

1. Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome.