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malformation was the only abnormality in the family an autosomal dominant mode of inheritance
likely, except in one case where there was consanguinity. Where there were associated
malformations no single mode of inheritance emerged. Two families with probably hitherto
unrecognised recessive syndromes are described. In most cases of anorectal malformation the
recurrence risk is low. Multiple associated malformations may indicate recessive inheritance and
subsequent pregnancies should be regarded as high risk and full antenatal investigative facilities
provided.
was
Boys
Girls
(108)
(6(0)
47 (44)
17 (28)
61 (56)
43 (72)
Total
(169)f
65*(38)
1(04 (62)
High
Low
Table 2 Distribution of associated abnormalities in 169 infants with high and low anorectal malformation.
Values are No (%)
Svstemn
Genitourinary tract
Skeletal
Cardiovascular
Facial
Gastrointestinal
Single umbilical artery
Neurological
Miscellaneous
*One intersex case.
Bosvs
All cases
High
(ni=65)'
39 (6(0)
2(0 (31)
14 (22)
13 (2(0)
22 (34)
8 (12)
2 (3)
5 (8)
Low
(ni=104)
28 (37)
15 (14)
1() (1())
1( (1()
()
1 (1)
3 (3)
7 (7)
Girls
High (n=47)
Low, (ni=61)
High (n 17)
Lot' (n=43)
25
13
12
9
16
4
2
3
(53)
15 (25)
(28)
10 (16)
5 (8)
5 (8)
()
()
14
7
2
4
6
4
12
5
4
4
(26)
(19)
(33)
(9)
(4)
(6)
2 (3)
6 (I1))
(82)
(41)
(12)
(24)
(35)
(24)
()
1
(28)
(12)
(9)
(9)
(2)
(6)
(2)
Sex
7T!Pe
Other abniormialities
ARM
Aftfcited
M
M
miemicber
Low
Low
Fither
Hallf brother
Low
Low
High
Father
Fhther
AhnorImalilies
Imperforite insius
Anall stctisosis
(patternal)
3
Second
cousin
Low
Low
High
High
Ill
High
I1
12
13
High
Low
Low
14
Low
15
High
tinus
Itperforate
iIius
ittus
('?sex)
Sister
forctrmii.
dysplistic kidncys.
imperforate atius
Sibling
Siblings (?sex)
Sister
dysplaistic foot.
Imperforate
Impcrforaitc
Anencephaly
Conjoiitii twins
Anal steniosis.
polydicltvlv.
singlc vcntricie.
asplenia
Father
Broad phalanges
Paternal
Accessory
Mother
auricie
Septate vagina
Toe webbinig
mental retardation
Mentall retairdation
Father
Similatr lacial
uncle
Mother
Brother
conliguratioll
Cousin (F)
Aunt
Sister
Intact hymen
"Double uterus"
Similar facial
configuration
CVS=Cardiovascular. ASD=Atrial septal defect. VSD=ventricular septal defect; l'GV=transposition of the great vessels; AV=anterior-ventral; GUT=genitourinary tract, GIlT=gastrointestinal tract, CNS=central nervous system; Misc=miscellaneous.
References
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2
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