Gillespie syndrome: 2 familial cases
We report 2 familial cases of Gillespie syndrome in an 8-year-old girl and her brother 16 months old. They had both congenital aniridia, cerebellar ataxia and mental retardation. In the girl, pupillar dilation in the 2 eyes and delay in different milestones development were elicited at 2 years. She...
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| Veröffentlicht in: | Archives de pédiatrie : organe officiel de la Société française de pédiatrie 2006-10, Vol.13 (10), p.1323-1325 |
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| container_title | Archives de pédiatrie : organe officiel de la Société française de pédiatrie |
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| creator | Boughamoura, L Yacoub, M Abroug, M Chabchoub, I Bouguezzi, R Charfeddine, L Amri, F Essoussi, A-S |
| description | We report 2 familial cases of Gillespie syndrome in an 8-year-old girl and her brother 16 months old. They had both congenital aniridia, cerebellar ataxia and mental retardation. In the girl, pupillar dilation in the 2 eyes and delay in different milestones development were elicited at 2 years. She was summoned at the birth of her brother that had pronounced floppiness and the same ocular abnormalities. Ophtalmological exam confirmed partial and bilateral aniridia in both sibs. Brain MRI showed vermis atrophy in the girl and an hypoplasic inferior vermis in her brother. Apropos of these case reports, we make a brief update about this extremely rare genetic syndrome. |
| doi_str_mv | 10.1016/j.arcped.2006.06.028 |
| format | Article |
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| ispartof | Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2006-10, Vol.13 (10), p.1323-1325 |
| issn | 0929-693X |
| language | fre |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Brain - abnormalities Child Consanguinity Eye Abnormalities - genetics Female Humans Infant Intellectual Disability - genetics Male Siblings Syndrome |
| title | Gillespie syndrome: 2 familial cases |
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