Holzgreve Syndrome

Holzgreve et al. (1984) described a fetus with Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects. Bonnet et al. (1987) described a similar case in a female infant with Potter sequence, heart defect, and cleft palate. A third case was described by Legius et al. (1988), who used the designation Holzgreve-Wagner-Rehder syndrome. Thomas et al. (1993) reported 2 sibs as the first familial occurrence of the syndrome: one, a female, had hypoplastic left heart sequence and renal hypoplasia; the other, a male, had a complex congenital heart defect, renal agenesis, and cleft lip and palate.

Zlotogora et al. (1996) described 4 sibs from healthy unrelated parents of Ashkenazi Jewish origin with Potter sequence with cleft lip/palate and cardiac anomalies. They proposed that these patients, as well as the 2 sibs reported by Thomas et al. (1993), had a syndrome different from the one described by Holzgreve et al. (1984), mainly because of the absence of polydactyly. They referred to this as Thomas syndrome and suggested that it is inherited as an autosomal recessive with marked variability.