CRANIOFACIAL ANOMALIES AND MALFORMATIONS IN RESPIRATORY-CHAIN DEFICIENCY

We report on facial anomalies including round face, high forehead, hat philtrum, apparently low-set ears, and short neck in 4 unrelated pati ents with mitochondrial respiratory enzyme deficiency. Pre- and postna tal growth retardation with microcephaly, brachydactyly, and hypoplasi a of distal and middle phalanges was present in all 4 cases. The diagn osis of respiratory chain deficiency was confirmed by enzymatic and mo lecular studies. The combination of facial anomalies, prenatal growth failure, and malformations is suggestive of antenatal expression of th e disease, and raises the question of the part that respiratory chain deficiencies play in human malformations. (C) 1996 Wiley-Liss, Inc.