189960 TRACHEOESOPHAGEAL FISTULA WITH OR
WITHOUT ESOPHAGEAL ATRESIA
Alternative
titles; symbols
ESOPHAGEAL ATRESIA WITH OR WITHOUT
TRACHEOESOPHAGEAL FISTULA
table OF
CONTENTS
Note: pressing the 
symbol will find the citations in MEDLINE whose
text most closely matches the text of the preceding
OMIM paragraph, using the Entrez MEDLINE
neighboring function.
TEXT
Engel et al. (1970)
gave the first report of childbearing by a woman
who had had correction of esophageal atresia and
tracheoesophageal fistula during infancy. The
report was of further significance because her
child likewise had esophageal atresia and
tracheoesophageal fistula. Schimke
et al. (1972) reviewed the literature on
esophageal atresia with or without
tracheoesophageal fistula and reported a kindred
with 2 proved and 3 probable cases. Affected sibs
were reported by several authors and parental
consanguinity was reported in at least one study
(Grieve and McDermott,
1939). Mendelian inheritance is unlikely.
Dennis et al. (1973)
reported esophageal atresia in a boy, his mother
and his mother's sister. They reviewed the
literature and concluded that etiology is probably
multifactorial. Kiesewetter
and Bower (1980) reported affected father and
daughter. Van Staey et al.
(1984) reviewed 76 familial cases from the
literature and added 2 personal observations
(distributed in 33 pedigrees). They concluded that
'with exception of the cases where EA is part of a
chromosomal or of a known monogenic or teratogenic
syndrome, the recurrence risks fit into a
multifactorial scheme.' Pletcher
et al. (1991) reported 2 families: in one, the
mother and a daughter had both esophageal atresia
and tracheoesophageal fistula, whereas a son had
only esophageal atresia. In the second family, a
boy and girl with the same father but different
mothers (all normal) had both esophageal atresia
and tracheoesophageal fistula.
SEE
ALSO
- Erichsen et al.
(1981)
REFERENCES
- 1. Dennis, N. R.;
Nicholas, J. L.; Kovar, I. :
- Oesophageal atresia: 3 cases in 2
generations. Arch. Dis. Child.
48: 980-982, 1973.
PubMed ID : 4765663
- 2. Engel, P. M. A.;
Vos, L. J. M.; De Vries, J. A.; Kuijjer, P. J.
:
- Esophageal atresia with
tracheoesophageal fistula in mother and
child. J. Pediat. Surg. 5:
564-565, 1970.
PubMed ID : 5505694
- 3. Erichsen, G.;
Hauge, M.; Madsen, C. M.; Roed-Petersen, K.;
Sondergaard, T. :
- Two-generation transmission of
oesophageal atresia with tracheo-oesophageal
fistula. Acta Paediat. Scand.
70: 253-254, 1981.
PubMed ID : 7234408
- 4. Grieve, J. C.;
McDermott, J. G. :
- Congenital atresia of the oesophagus
in two brothers. Canad. Med. Assoc.
J. 41: 185-186, 1939.
- 5. Kiesewetter, W.
B.; Bower, R. J. :
- Tracheoesophageal fistula in parent
and offspring: a rare occurrence.
(Letter) Am. J. Dis. Child.
134: 896 only, 1980.
PubMed ID : 7416122
- 6. Pletcher, B. A.;
Friedes, J. S.; Breg, W. R.; Touloukian, R. J.
:
- Familial occurrence of esophageal
atresia with and without tracheoesophagel (sic)
fistula: report of two unusual
kindreds. Am. J. Med. Genet.
39: 380-384, 1991.
PubMed ID : 1877613
- 7. Schimke, R. N.;
Leape, L. L.; Holder, T. M. :
- Familial occurrence of esophageal
atresia: a preliminary report.
Birth Defects Orig. Art. Ser. VIII(2):
22-23, 1972.
- 8. Van Staey, M.; De
Bie, S.; Matton, M. T.; De Roose, J. :
- Familial congenital esophageal
atresia: personal case report and review of the
literature. Hum. Genet. 66:
260-266, 1984.
PubMed ID : 6714984
CLINICAL
SYNOPSIS
View
Clinical Synopsis Entry
Victor A. McKusick : 6/2/1986
EDIT HISTORY
mimadm : 5/10/1995
supermim : 3/16/1992
carol : 7/9/1991
carol : 6/25/1991
supermim : 3/20/1990
ddp : 10/27/1989
|
