Premium
Familial caudal dysgenesis: evidence for a major dominant gene
Author(s) -
Rudd Noreen L.,
Klimek Mary L.
Publication year - 1990
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.1399-0004.1990.tb03567.x
Subject(s) - imperforate anus , dysgenesis , umbilical cord , single umbilical artery , anatomy , medicine , penetrance , genitourinary system , biology , genetics , gene , fetus , phenotype , pregnancy
Four sibs with varying degrees of caudal dysgenesis are described. Case 1 showed aberrant umbilical cord vasculature with a single umbilical artery near the placental insertion. Cases 2 and 3 showed full sirenomelia, one with a complex congenital heart defect. Case 4 had an imperforate anus and an excessively long umbilical cord. The father's half‐sib had an imperforate anus, rectovaginal fistula and genitourinary anomalies. A dominant gene with reduced penetrance is likely.