261800 PIERRE ROBIN SYNDROME
Alternative
titles; symbols
GLOSSOPTOSIS, MICROGNATHIA, AND CLEFT
PALATE
PIERRE ROBIN SEQUENCE
table OF
CONTENTS
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TEXT
Affected brothers were reported by Smith
and Stowe (1961) and pictured by McKusick
et al. (1962). (It is possible that these
brothers had either the Wagner syndrome or the
Stickler syndrome; see 143200,
108300.)
Sachtleben (1964) also
described 2 brothers, who, in addition to the usual
features, had bilateral syndactyly of the second
and third toes and evidence of cardiac disease. The
older brother had hypospadias, bipartite scrotum,
and mental retardation. Shah
et al. (1970) observed Pierre Robin syndrome in
4 sibs, including a set of twins. Bixler
and Christian (1971) described the full Robin
syndrome in 2 sibships related to each other as
second cousins. Singh et al.
(1970) reported a third pair of affected
brothers. In the view of Opitz
(1973), Stickler syndrome should come to mind
first in cases of the Pierre Robin syndrome,
especially familial cases. Segreti
and Maumanee (1977) described Pierre Robin
anomalad in 3 children, 2 females and a male, with
2 different fathers. The mother showed stigmata of
the syndrome, as did her father and 2 of her other
children, who had slightly high, narrow palates and
micrognathia. One of the affected sibs died of a
complex of cardiac malformations. The authors
favored dominant inheritance. Sheffield
et al. (1987) performed a follow-up study of 64
infants. Twelve of 47 living patients (26%) were
diagnosed as having an underlying syndrome, the
most common of which was Stickler syndrome (in 6
cases). There was no recurrence in sibs of patients
with nonsyndromic Pierre Robin complex.
The Pierre Robin syndrome qualifies as a
sequence in terms of the definition layed down by
David W. Smith. This does not, however, exclude the
possibility of its being mendelian.
SEE
ALSO
- Russo et al.
(1973)
REFERENCES
- 1. Bixler, D.;
Christian, J. C. :
- Pierre Robin syndrome occurring in
two unrelated sibships. Birth
Defects Orig. Art. Ser. VII(7): 67-71,
1971.
- 2. McKusick, V. A.;
Abbey, H.; Bowen, P.; Boyer, S. H., IV; Cohen,
B. H.; Danks, D. M.; Emery, A. E. H.; Finn, R.;
Ferguson-Smith, M. A.; Goodman, R. M.;
Handmaker, S. D.; Harris, W. S.; and 15 others
:
- Medical genetics 1961.
J. Chronic Dis. 15: 417-572, 1962.
- 3. Opitz, J. M. :
Personal Communication. Madison, Wis., 1973.
- 4. Russo, G.;
Mollica, F.; Pavone, L.; Musumeci, S. :
- Robin's syndrome in three children
of consanguineous parents. A pedigree suggesting
autosomal recessive inheritance.
Acta Genet. Med. Gemellol. 21: 349-353,
1973.
- 5. Sachtleben, P.
:
- Zur Pathogenese und Therapie des
Pierre-Robin-Syndroms. Arch.
Kinderheilk. 171: 55-63, 1964.
- 6. Segreti, W. O.;
Maumanee, P. :
- Familial occurrence of Pierre Robin
anomalad. Med. Coll. Va.
Quart. 13(4): 192-193, 1977.
- 7. Shah, C. V.;
Pruzansky, S.; Harris, W. S. :
- Cardiac malformations with facial
clefts. Am. J. Dis. Child.
114: 238-244, 1970.
- 8. Sheffield, L. J.;
Reiss, J. A.; Strohm, K.; Gilding, M. :
- A genetic follow-up study of 64
patients with the Pierre Robin complex.
Am. J. Med. Genet. 28: 25-36, 1987.
PubMed ID : 3674115
- 9. Singh, R. P.;
Jaco, N. T.; Vigna, V. :
- Pierre Robin syndrome in
siblings. Am. J. Dis. Child.
120: 560-561, 1970.
PubMed ID : 5481910
- 10. Smith, J. L.;
Stowe, F. R. :
- The Pierre Robin syndrome
(glossoptosis, micrognathia, cleft palate). A
review of 39 cases with emphasis on associated
ocular lesions. Pediatrics 27:
128-133, 1961.
CLINICAL
SYNOPSIS
View
Clinical Synopsis Entry
CREATION DATE
Victor A. McKusick : 6/4/1986
EDIT HISTORY
joanna : 7/7/1997
jamie : 2/4/1997
jamie : 2/4/1997
mark : 8/11/1995
davew : 8/9/1994
warfield : 4/20/1994
mimadm : 4/13/1994
supermim : 3/17/1992
carol : 2/29/1992
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