Five boys and two girls from a large consanguineous British Muslim family of Pakistani origin are described. All presented from infancy to early childhood with progressive moderate to severe developmental delay, postnatal microcephaly, spastic quadriplegia, refractory seizures, and visual handicap.
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome
✍ Scribed by Georgia Ramantani; Jürgen Kohlhase; Christoph Hertzberg; A. Micheil Innes; Kerstin Engel; Susan Hunger; Wiktor Borozdin; Jean K. Mah; Kristina Ungerath; Hartmut Walkenhorst; Hans-Helmut Richardt; Johannes Buckard; Andrea Bevot; Corinna Siegel; Celina von Stülpnagel; Chrysanthy Ikonomidou; Kara Thomas; Virginia Proud; Frank Niemann; Dagmar Wieczorek; Martin Häusler; Pascal Niggemann; Volkan Baltaci; Karsten Conrad; Pierre Lebon; Min Ae Lee-Kirsch
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 139 KB
- Volume
- 62
- Category
- Article
- ISSN
- 0004-3591
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Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked overgrowth syndrome caused by deletions in glypican 3 (GPC3). SGBS is characterized by pre- and postnatal overgrowth, a characteristic facial appearance, and a spectrum of congenital malformations which overlaps that of other overgrowth syndromes.