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Craniofacial anomalies and malformations in respiratory chain deficiency

✍ Scribed by Cormier-Daire, V.; Rustin, P.; Rötig, A.; Chrétien, D.; Le Merrer, M.; Belli, D.; Le Goff, A.; Hubert, P.; Ricour, C.; Munnich, A.

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
683 KB
Volume
66
Category
Article
ISSN
0148-7299

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✦ Synopsis

W e report on facial anomalies including round face, high forehead, flat philtrum, apparently low-set ears, and short neck in 4 unrelated patients with mitochondrial respiratory enzyme deficiency. Pre-and postnatal growth retardation with microcephaly, brachydactyly, and hypoplasia of distal and middle phalanges was present in all 4 cases. The diagnosis of respiratory chain deficiency was confirmed by enzymatic and molecular studies. The combination of facial anomalies, prenatal growth failure, and malformations is suggestive of antenatal expression of the disease, and raises the question of the part that respiratory chain deficiencies play in human malformations.

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✍ Triepels, R.H. ;Van Den Heuvel, L.P. ;Trijbels, J.M. ;Smeitink, J.A. 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 151 KB

## Abstract Oxidative phosphorylation disorders make a contribution of 1 per 10,000 live births in man, of which isolated complex I deficiency is frequently the cause. Complex I, or NADH:ubiquinone oxidoreductase, is the largest multi‐protein enzyme complex of the mitochondrial electron transfer ch