Literature DB >> 7293991

Hereditary stiff-baby syndrome.

S Lingam, J Wilson, E W Hart.   

Abstract

Clinical and electrophysiologic features of an infant with stiff-baby syndrome were studied; his father, uncle, and paternal grandmother suffered from a similar disorder. They all had a similar facial appearance during infancy (an alert, frightened, tense look) and a tendency to vomit because of hiatal hernias. The condition is benign but causes anxiety and, later, embarrassment as affected adults suddenly fall when stumbling or startled. We suggest that the condition be called hereditary stiff-baby syndrome. The family history is suggestive of autosomal dominant inheritance.

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Year:  1981        PMID: 7293991     DOI: 10.1001/archpedi.1981.02130340021008

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN: 0002-922X


  6 in total

1.  Hyperexplexia or stiff baby syndrome.

Authors:  C Tohier; J C Roze; A David; M F Veccierini; P Renaud; A Mouzard
Journal:  Arch Dis Child       Date:  1991-04       Impact factor: 3.791

2.  Hyperekplexia in two siblings.

Authors:  M L Kulkarni; B Kannan; Prakash Mathadh
Journal:  Indian J Pediatr       Date:  2006-12       Impact factor: 1.967

3.  Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q.

Authors:  S G Ryan; M J Dixon; M A Nigro; K A Kelts; O N Markand; J C Terry; R Shiang; J J Wasmuth; P O'Connell
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

4.  Hyperekplexia and stiff-baby syndrome: an identical neurological disorder?

Authors:  G Cioni; E Biagioni; P Bottai; A M Castellacci; P B Paolicelli
Journal:  Ital J Neurol Sci       Date:  1993-03

5.  Transient neuromotor phenotype in transgenic spastic mice expressing low levels of glycine receptor beta-subunit: an animal model of startle disease.

Authors:  L Becker; B Hartenstein; J Schenkel; J Kuhse; H Betz; H Weiher
Journal:  Eur J Neurosci       Date:  2000-01       Impact factor: 3.386

6.  An Unusual Startling.

Authors:  Ibrahim Aliyu; Zainab Ibrahim
Journal:  Indian J Psychol Med       Date:  2015 Oct-Dec
  6 in total

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