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Abnormalities, Multiple/diagnosis/ genetics
Abnormalities, Multiple/diagnosis/ genetics
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This case report discusses a case of 4q deletion syndrome, presenting with asymptomatic bilateral disk swelling
Abstract:
Terminal deletion of chromosome 4q is a genetic abnormality associated predominantly with cardiac abnormalities, abnormal facial features, and developmental delay. A specific clinical clue to this infrequently diagnosed disorder is hypoplasia of the terminal phalanx of the fifth finger with an abnormal nail, occasionally extending onto the volar surface. Ocular manifestations of the more...
International Classification:
Diseases of the eye and adnexa - Report
Categories:
asymptomatic bilateral disk swelling
Geography:
Republic of Ireland
J Aapos,
Vol: 11 Page: 516-8 October 2007
P. Connell; D. Brosnahan; A. Dunlop; W. Reardon
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This case report discusses a case of neonatal seizures and limb malformations associated with liver-specific complex IV respiratory chain deficiency
Abstract:
An eight-week-old infant, the fourth child of consanguineous parents presented with intractable neonatal seizures. The mother had two previous miscarriages. The infant initially presented on day one with multifocal myoclonus, complex partial and generalised tonic-clonic seizures. On examination, there were dysmorphic hands and feet, with absent nails and terminal phalanges of the more...
International Classification:
Other - complex IV respiratory chain deficiency
Categories:
liver-specific complex IV respiratory chain deficiency
Geography:
Republic of Ireland
Eur J Paediatr Neurol,
Vol: 8 Page: 55-9 2004
M. A. Kurian; E. S. O'Mahoney; P. Rustin; G. Brown; E. P. Treacy; M. D. King
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