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

Figures & data

Figure 1. (A) Potter face; (B) large, malformed ears; and (C) cleft palate.

Figure 2. (A) CT image of bilateral renal hypoplasia. (B) Ultrasonographic image showing renal hypoplasia and cysts. Renal size for right kidney was 1.5 cm in length (normal values for neonates 2.5–4.8 cm) and 0.8 cm in depth (normal values for neonates 1.3–2.7 cm).

Table 1. Thomas Syndrome—clinical variability.

Author	Pregnancy	Kidneys	CL/CP	Cardiac	Other findings
Curry et al.^3	IUGR	Cystic dysplasia	CP	Ventricular septal defect	Toe syndactyly
	IUGR	Cystic dysplasia	CP	Coarctation of aorta, aortic valve atresia
Thomas et al.^4	Normal	Small	None	Small left atrium, mitral atresia, aortic atresia, hypoplasia of ascending aorta
	IUGR	Bilateral agenesis	None	Complex cardiac defects
Zlotogora et al.^7	IUGR	Absent	None
	IUGR	Absent/cystic	None	Large patent ductus arteriosus	Periventricular cyst
	IUFD	Hypoplasia	CL/CP	Tetralogy of Fallot	Hypospadias
	Normal	Agenesis	CP	Bicuspid pulmonary valve
Our patient	IUGR	Bilateral hypoplasia, cystic dysplasia	CP	Patent ductus arteriosus, atrioventricular septal defect, ventricular septal defect	Long large ears, small lips, frontal bossing, down slanting palpebral fissures, partial simple toe syndactyly

Note: IUGR, intrauterine growth retardation; IUFD, intrauterine fetal death; CL, cleft lip; CP, cleft palate.

Curry CJR, Jensen K, Holland J, Miller L, Hall ED. The Potter sequence. Am J Med Genet. 1984;19:679–702.

 PubMed Web of Science ®Google Scholar

Thomas IT, Honore GM, Jewett H, Velvis H, Garber P, Ruiz C. Holzgreve syndrome: Recurrence in sibs. Am J Med Genet. 1993;45:767–769.

 PubMedGoogle Scholar

Zlotogora J, Ariel J, Ornoy A, Yagel S, Eidelman AI. Thomas syndrome: Potter sequence with cleft lip/palate and cardiac anomalies. Am J Med Genet. 1996;2:224–226.

 Google Scholar