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Congenital heart defects, hamartomas of the tongue and polysyndactyly in a sister and brother
Author(s) -
Örstavik Karen Helene,
Lindemann Ralf,
Solberg Lars Åge,
Foerster Arnold,
Sørland Svein Jan
Publication year - 1992
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1992.tb03129.x
Subject(s) - medicine , polydactyly , sister , tongue , brother , pediatrics , anatomy , pathology , sociology , anthropology
We report a sister and brother with congenital heart defects, hamartomas of the tongue and polydactyly. Both had coarctation of the aorta, which was repaired in early infancy. In addition, the girl had atrioventricular canal. She died postoperatively at age 4 years. The boy had subaortic stenosis and died of pneumonia at age 2 years. Both children had normal psychomotor development. The parents were healthy and unrelated. The familial occurrence could be due to a previously unrecognized autosomal recessive syndrome or parental gonadal mosaicism for a dominant syndrome.