169100 PATENT DUCTUS ARTERIOSUS; PDA
Alternative
titles; symbols
CHAR SYNDROME, INCLUDED
TABLE OF
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TEXT
Occasionally patent ductus arteriosus occurs in
so many members of multiple generations of a family
that simple autosomal dominant inheritance seems
likely. For example, Burman
(1961) described PDA in a girl, her father and
2 paternal aunts with the paternal grandfather and
some other members of the family possibly also
affected. Goodyear (1961)
observed a family in which the mother had patent
ductus arteriosus and 2 of her 3 children had
persistent truncus arteriosus. An established
exogenous cause of PDA is maternal rubella.
Davidson (1993) described
a large family in which 9 members in 6 sibships in
3 generations had patent ductus arteriosus in
association with unusual facial features, namely,
broad, high forehead, flat profile, and short nose
with a broad, flattened tip. The facial features
appeared to follow an autosomal dominant pedigree
pattern with at least 1 instance of male-to-male
transmission; PDA showed incomplete penetrance. PDA
was reported by the family to be present in 2 other
members, one of whom was said to have the facial
features and one not.
Pierpoint and Sletten
(1994) used the eponym Char syndrome for
familial PDA with unusual facial features,
including long philtrum, down slanting palpebral
fissures, and thick lips. They reported a new
family in which 7 members had PDA. Premature birth
was not a factor in any of these individuals. PDA
had been the only form of congenital heart anomaly
present in family members except for one 8-year-old
boy who had a small muscular ventricular septal
defect. Three generations were affected in an
autosomal dominant pedigree pattern.
Sletten and Pierpont
(1995) observed 7 relatives in 5 sibships in 3
generations of a family with patent ductus
arteriosus and a slightly unusual facial appearance
with prominent midface with nose elongation and
flattening of the nasal bridge, wide-set eyes,
downturned palpebral fissures, mild ptosis,
thickened lips, and apparently slightly low-set
ears. The pattern was consistent with autosomal
dominant inheritance although no male-to-male
transmission was observed. Sletten
and Pierpont (1995) gave an extensive
tabulation of reports of familial PDA. They pointed
to the syndrome reported by Char
(1978) in which patent ductus arteriosus was
associated with a much more unusual facies with
short philtrum, duck-bill lips, ptosis, and low-set
ears. Temple (1992) also
described this syndrome, referring to it as Char
syndrome.
Slavotinek et al.
(1997) described a family with PDA, a
distinctive facial appearance (eyebrow flare, short
nose, and 'duck-bill lips'), polydactyly, and fifth
finger clinodactyly. The facial features were
considered consistent with CHAR syndrome. Seven
members of 3 generations were affected, with 2
instances of male-to-male transmission. This was
the first report of associated polydactyly that was
interstitial in type. The foot of 1 patient with 2
toes attached to the fourth metatarsal was
illustrated. Evolution of the phenotype with age
was noted; the facial findings in older relatives
were less pronounced and the duck-bill lips less
prominent.
-
SEE ALSO
- Lynch et al.
(1965)
REFERENCES
- 1. Burman, D. :
- Familial patent ductus
arteriosus. Brit. Heart J. 23:
603-604, 1961.
- 2. Char, F. :
- Peculiar facies with short philtrum,
duck-bill lips, ptosis and low-set ears--A new
syndrome?. Birth Defects Orig. Art.
Ser. XIV 6B: 303-305, 1978.
- 3. Davidson, H. R.
:
- A large family with patent ductus
arteriosus and unusual face. J.
Med. Genet. 30: 503-505, 1993.
PubMed ID : 8326495
- 4. Goodyear, J. E.
:
- Persistent truncus arteriosus in two
siblings. Brit. Heart J. 23:
194-196, 1961.
- 5. Lynch, H. T.;
Grissom, R. L.; Magnuson, C. R.; Krush, A. J.
:
- Patent ductus arteriosus: study of
two families. J.A.M.A. 194:
135-138, 1965.
PubMed ID : 5897316
- 6. Pierpoint, M. E.;
Sletten, L. J. :
- Char syndrome: a cause of familial
patent ductus arteriosus. (Abstract)
Am. J. Hum. Genet. 55 (suppl.): A89
only, 1994.
- 7. Slavotinek, A.;
Clayton-Smith, J.; Super, M. :
- Familial patent ductus arteriosus: a
further case of CHAR syndrome. Am.
J. Med. Genet. 71: 229-232, 1997.
PubMed ID : 9217229
- 8. Sletten, L. J.;
Pierpont, M. E. M. :
- Familial occurrence of patent ductus
arteriosus. Am. J. Med. Genet.
57: 27-30, 1995.
PubMed ID : 7645594
- 9. Temple, I. K.
:
- Char syndrome (unusual mouth, patent
ductus arteriosus, phalangeal
anomalies). Clin. Dysmorph. 1:
17-21, 1992.
PubMed ID : 1342853
CLINICAL
SYNOPSIS
View
Clinical Synopsis Entry
Victor A. McKusick - updated : 9/3/1997
Victor A. McKusick : 6/2/1986
EDIT HISTORY
jenny : 9/9/1997
terry : 9/3/1997
mark : 7/12/1995
terry : 6/24/1995
mimadm : 1/14/1995
carol : 8/10/1993
supermim : 3/16/1992
supermim : 3/20/1990
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