Thomas syndrome: potter sequence with cleft lip/palate and cardiac anomalies.
Holzgreve et al. [Am J Med Genet 18:177-184, 1984] first reported on a syndrome including renal anomalies, heart defect, polydactyly, and cleft palate with other oropharyngeal anomalies. We report here on four sibs with renal adysplasia associated in two with cardiovascular malformations and cleft lip or cleft palate in two. We propose that these patients as the two siblings reported by Thomas et al. [Am J Med Genet 45:767-769, 1993] are affected with a syndrome different of the one described by Holzgreve et al. [Am J Med Genet 18:177-184, 1984] mainly because of the absence of polydactyly. Thomas syndrome is probably inherited as an autosomal recessive trait with marked variability.
Zlotogora
J
J
Department of Human Genetics, Rosa and David Orzen Human Genetics Clinic, Jerusalem, Israel.
Ariel
I
I
Ornoy
A
A
Yagel
S
S
Eidelman
A I
AI
D000015:Abnormalities, Multiple / Q000503:physiopathology*; D000328:Adult; D002971:Cleft Lip / Q000150:complications*; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities* / Q000000981:diagnostic imaging; D008297:Male; D010159:Palate / Q000002:abnormalities*; D011247:Pregnancy; D014463:Ultrasonography