I describe a boy with lambdoid craniosynostosis, severe global developmental delay, epilepsy, oculomotor dyspraxia, very thin corpus callosum, and minor anomalies. The phenotype is in keeping with a diagnosis of craniofacial dyssynostosis. This autosomal recessive condition was first described in 19
โฆ LIBER โฆ
INTRACELLULAR PROTEIN CRYSTALLISATION : Report of a Further Case
โ Scribed by Lennart Zettergren
- Book ID
- 114818578
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 790 KB
- Volume
- 36
- Category
- Article
- ISSN
- 0365-5555
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Craniofacial dyssynostosis: A further ca
โ
Morton, Jenny E.V.
๐
Article
๐
1998
๐
John Wiley and Sons
๐
English
โ 25 KB
๐ 2 views
The Shulman syndrome: report of a furthe
โ
KALMAN KECZKES; JOHN D. GOODE
๐
Article
๐
1979
๐
John Wiley and Sons
๐
English
โ 297 KB
Further report on a case of paroxysmal t
โ
Leonard Abrahamson
๐
Article
๐
1924
๐
Springer-Verlag
๐
English
โ 572 KB
Further report on a case of trigeminal n
โ
J. Hamilton Barclay
๐
Article
๐
1935
๐
John Wiley and Sons
๐
English
โ 220 KB
Zafirlukast-related hepatitis: report of
โ
G.C Actis; A Morgando; M Lagget; E David; M Rizzetto
๐
Article
๐
2001
๐
Elsevier Science
๐
English
โ 243 KB
Gillespie syndrome: A report of two furt
โ
Nelson, John; Flaherty, Maree; Grattan-Smith, Padraic
๐
Article
๐
1997
๐
John Wiley and Sons
๐
English
โ 27 KB
๐ 2 views
We describe two unrelated patients with Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation). The typical presentation is the discovery of fixed dilated pupils in a hypotonic infant. The iris abnormality is specific and seems pathognomonic of Gillespie syndrome. It can be