title: Craniofacial anomalies and malformations in respiratory chain deficiency.
abstract: We 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.
authors.affiliation: INSERM U393 Département de Génétique, Hôpital des Enfants Malades, Paris, France.
authors.forename: V
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: P
authors.initials: P
authors.lastname: Rustin
authors.forename: A
authors.initials: A
authors.lastname: Rötig
authors.forename: D
authors.initials: D
authors.lastname: Chrétien
authors.forename: M
authors.initials: M
authors.lastname: Le Merrer
authors.forename: D
authors.initials: D
authors.lastname: Belli
authors.forename: A
authors.initials: A
authors.lastname: Le Goff
authors.forename: P
authors.initials: P
authors.lastname: Hubert
authors.forename: C
authors.initials: C
authors.lastname: Ricour
authors.forename: A
authors.initials: A
authors.lastname: Munnich
mesh_terms: D000015:Abnormalities, Multiple / Q000201:enzymology*; D019465:Craniofacial Abnormalities / Q000201:enzymology*; D004579:Electron Transport; D004798:Enzymes / Q000172:deficiency; D005183:Failure to Thrive; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008214:Lymphocytes / Q000201:enzymology; D008297:Male; D008928:Mitochondria / Q000201:enzymology; D008930:Mitochondria, Liver / Q000201:enzymology; D018482:Muscle, Skeletal / Q000201:enzymology; D012867:Skin / Q000166:cytology / Q000201:enzymology
chemical_list: D004798:Enzymes