Holzgreve syndrome: Recurrence in sibs

Abstract

We report on 2 sibs with cardiac and renal abnormalities. The first had hypoplastic left heart sequence and renal hypoplasia; the second had a complex congenital heart defect, renal agenesis, and cleft lip and palate. We suggest that these cases represent the first familial examples of the Holzgreve syndrome. As such, they demonstrate the phenotypic variability seen in sibs, and may serve to further delineate the syndrome.

Thomas syndrome: Clinical variability and autosomal recessive inheritance

“…This condition is a lethal multiple congenital anomalies syndrome which is probably inherited as an autosomal recessive trait. Our patient, the 4 sibs reported by Zlotogora et al [1996] and the 2 sibs reported by Thomas et al [1993] did not have polydactyly and intrabuccal bands as did the patients described by Holzgreve et al [1984] and Legius et al [1988]. This suggests that the latter cases may represent a different condition.…”

Bilateral Renal Hypoplasia and Cystic Dysplasia: A New Phenotype of Thomas Syndrome or a New Syndrome?

“…It is probably inherited as an autosomal recessive trait. [4][5][6][7] Our patient was born with severe growth retardation. She had Potter face and cleft palate and soon after birth she had severe respiratory failure.…”

“…Leguis et al 11 made the second observation for Holzgreve syndrome. Thomas et al 4 reported two sibs with cardiac and renal abnormalities. The first baby had hypoplastic left heart and renal hypoplasia; the second baby had complex congenital heart defect, renal agenesis, and cleft lip and palate.…”

“…Thomas et al 4 emphasized that Holzgreve and Thomas syndromes are different entities. Briscioli et al 6 proposed that the two sibs reported by Thomas et al, 4 the patient reported by themselves, the four sibs reported by Zlotogora et al 7 did not have polydactyly and intrabuccal bands as did the patients described by Holzgreve et al 10 and Legius et al 11 On the basis of history, clinical, and laboratory findings, our patient described in the present report is very similar to those reported by Cury et al, 3 Thomas et al, 4 Zlotogora et al, 7 and Briscioli et al 6 Bonnet et al 5 and Leguis et al 11 each reported an isolated patient with the similar combination of Potter sequence, heart defect, polydactyly, and cleft palate. The patient reported by Leguis et al 11 also had intrabuccal bands.…”

“…[1][2][3] Thomas syndrome is a lethal multiple congenital anomalies syndrome consisting of small kidneys, bilateral cleft lip/cleft palate, complex heart defects, bilateral renal agenesis/hypoplasia, and other malformations and it is probably inherited as an autosomal recessive trait. [4][5][6] Here, we report a newborn with Potter sequence, cleft palate, bilateral renal hypoplasia and cystic dysplasia, and cardiac malformations suggesting a variant of Thomas syndrome or a new syndrome.…”