(Received June 27; accepted for publication September 5, 1967.)
This study was made possible in part by Program Grant in Oral Pathology DE-1770.
Presented at the Symposium on Mucocutaneous Diseases, April 7, 1967, Miami Beach, Florida,
co-sponsored by the American Academy of Oral Pathology and the American Medical Association
Corn-mittee on Cutaneous Health and Cosmetics.
J.c.
is visiting professor, 1965-1967, from the Laboratory of Plastic Surgery, Czechoslovakia Academyof Sciences, Prague, Czechoslovakia.
ADDRESS FOR REPRINTS: (R.J.G. ) Division of Oral Pathology, University of Minnesota School of
Dentistry, Minneapolis, Minnesota 55455.
PEDIATRICS, Vol. 41, No. 2, February 1968
503
A
Syndrome
Comprising
Cleft
Lip-Palate,
Popliteal
and
Infercrural
Pterygia,
Digital
and
Genital
Anomalies
Robert J. Gorlin, D.D.S., M.S., Heddie 0. Sedano, D.D.S., M.S.,
and J. Cervenka, D.D.S., M.D.
From the Division of Oral Pathology, University of Minnesota School of Dentistry, Minneapolis
ABSTRACT. The name of popliteil pterygium
syndrome is suggested for a well defined complex
that consists of popliteal pterygium (usually bilat-eral), intercrural pterygium, various digital
anoma-lies that include hypoplasia or agenesis of digits,
valgus or vanis deformities of the feet and syn-dactyly, genitourinary anomalies (such as
cryptor-chidism, absent or cleft scrotum, inguinal hernia,
hypoplasia or aplasia of the labia majora), and oral
anomalies ( such as cleft lip-palate, syngnathia and lower labial pits). There may also be fihiform ad-hesion of the eyelids.
This syndrome is but one of perhaps 20 or more
that involve clefting of the lip and/or palate. It is
inherited as an autosomal dominant trait with
van-able expressivity. Rarely is it transmitted from
af-fected parent to offspring due to genital hypo-plasia. The authors point out the importance of the
awareness of the surgeon who corrects the popli-teal pterygium since the sciatic nerve runs beneath the fibrous septum that forms the free edge of the pterygium. Pediatrics, 41 :503, 1968, PTERYGIUM, POPLITEAL; PTERYGIUM, INTEECRURAL; CLEFF LIP-PALATE; CRYPTORCHIDISM; LABIA MAJORA, HYPO-PLASIA OR APLASIA; SCROTUM, CLEFT; SYNGNATHIA;
ANKYLOBLEPHERON FILIFORME ADNATUM.
W
HAT we choose to call the poplitealpterygium syndome is 1 of perhaps 20
or more rather well defined complexes that
include clefts of the lip and/or palate as a
component. Many of these have a genetic
basis. This syndrome, in particular,
possess-es several baffling and unique cutaneous
aspects that merit our consideration. Less
than 30 cases have been recorded (Tables I
and II
).
We shall briefly report a new caseand review some of its remarkable facets.
CASE REPORT
J.B.J., a 7-year-old male, was referred on Janu-ary 4, 1967, for consultation concerning various unusual congenital anomalies. He was the last
born child of a 38-year-old father and a
37-year-old mother. There are five older siblings, four male and one female, and there was one
mis-carriage after the fourth pregnancy. All are normal
and in good health as are the parents. There are
no known relatives with similar congenital
ab-normalities. The parents are of different
extrac-tions and consanguinity appears most unlikely.
Pregnancy was for full term but an Rh
incom-patibility caused exchange transfusion to be carried
out.
At birth, bilateral popliteal pterygia and
in-guinal hernia were noted as well as cleft of the
soft palate, ankyloblepharon fihiforme adnatum, and pits of lower lip which took the form of a
snout-like structure. The eyelid adhesions were immediately severed and the hernia was repaired at 4 months, but other surgery was deferred until
10 months of age when the first of three surgical
procedures was carried out. The other two were
performed at 5 and 7 years, respectively, and
locomotion has become progressively better,
al-though the patient still walks somewhat on his
toes. The palatal cleft and lip pits were repaired
at 14 months. Hearing has become mildly re-duced within the last year.
The child’s intelligence quotient is 1 18 and he
is doing well in school. His speech is somewhat nasal due to a slight velopalatine discrepancy.
The scars of the soft palate and lower lip
re-pair are evident (Fig. 1). His height of 44 in. places
him in the 3rd percentile. In the popliteal area,
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FI(;. 1. Scars of repair of lower lip pits.
Fi;. 2. Scars of repair of popliteal ptergia, which
extended from heels to ischial tuberosities. Also
note repaired talipes equinovarus and abnormal
anogenital area. (‘Xtt’II(l frool the heel to the ischial tuberosities
(Fig. 2). An intercrural pterygiuni is located
vim-tral to the anus (Fig. 3). The right testis is small
arK1 th( left is missing or verY atrophic. The rest
of the physical (‘xaI1iflatiOn was not remarkable
except for a pvraniidal fold of skin over the
hallux nail bilaterally (Fig. 4).
1)ermatoglyphics were not remarkable. All digits
113(1 ulnar loops except for a whorl on the right
thuhill). There was no distal axial triradius.
Periph-eral blood was drawn for chromosome StIl(lV.
Thirty mitoses were examined but no abnormality
was observed.
CUTANEOUS AND MUSCULOSKELETAL
ANOMALIES
Certainly the most striking component,
the pterygium or skin web
(
Flughaut)
,
cx-tends from tite heel to the ischial tuberosity,
limiting extelisiOll and abduction as veli as
rotation of the leg. In nearly all hut a few
caseshtll these webs have been bilateral.
Along the free edge of tile pterygium runs
a hard, inelastic, subcutaneous cord or
fibrous band
(
Fig. 5) . The sciatic nerve liesfree within tile pterygium deep to the
fibrous band about half way between the
free edge and the apex, being covered by
fibromusctilar septae
(
Fig. 6)
. Thepopli-teal vessels are normally situated deep in
the popliteal space and special caution
flTIUSt thus he given to repair of the skin
fold. In many cases there is absence of
iiitiscle groups or abnormal muscle
inser-tions.
Fi;. 3. Intercrural ptervgium. Right testis is small;
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Also present may be hypoplasia or
agen-esis of digits,”5--’3 varus or valgus
de-forrnities of tile foot2’’1013”6 syndactyly
of hands or feet,1-2’4-514-1’’ spina bifida
occulta,---’ and scoliosis or
lordo-is.’---’ Also noted have been bipartite
or abseiit 1)Itell1.MI3
The skin over the hallux has a somewhat
pyramidal form, one vertex extending over
tile nail.57,13,14,21 Congenital fihiform
ad-hesions between the upper and lower lids
(ankyloblepharon fihiforme adnatum) also
have been noted.9h121
GENITOURINARY ABNORMALITIES
Anomalies in the male have included
cryptorc1li(lism,I25Imn19 absent or cleft
scrotum,5bOullF21 and ingumnal
her-nia.9”-’-2’ Ill the female, absence of the
labia 2,13, I ,1 and enlarged
cli-toris-’4-17 have been noted. Infantile size
of the uterus was also described.13
There is also a unique crural pterygium
which extends between the thighs ventral
to the anus.’5-’’--2’
ORAL ABNORMALITIES
Cleft lip-palate has been described in
many of the cases.2’3-7’9’1”4’15’1T’18 In
others, there has been isolated cleft
I)alate.414121
Pits or fistulas of the lower lip4’13’19-21
aiid congenital bands or threads of mucous
membrane extending between the jaws
(syngnathia) have been reported.9 ‘
GENETIC CONSIDERATIONS
Tile genetic pattern, by which this
syn-drome is inherited, has still not been firmly
established (Tables I and II
).
There are 13males and 15 females. In two cases the
syn-cirome has shown partial manifestations in
a parent and child. In the case of Klein,6 a
mother and daughter were affected but the
latter was missing the popliteal pterygium.
In Lewis’ case,3 both children were affect-ed, but tue father had only cleft lip-palate.
Champion and Cregan4 noted that the
ma-ternal grandfather had cleft lip.
Of 21 pedigrees, there are five examples
FIG. 4. Hallux is small bilaterally. Also note pyra-niidal skin fold extending over hallux nail.
in which the syndrome has occurred in two
or more siblings. Chromosome studies have
been carried out in two cases2’21 and
karyo-types have been normal. Consanguinity
was noted by Rosselli and Gulienetti;5 the
parents of the two siblings were second
cousins.
The frequent occurrence in siblings, the
consanguinity in one case, and the equal
sex distribution might speak for autosomal
recessive inheritance. But the consanguinity
is probably a coincidence. The syndrome
has been noted in successive
genera--. - - -
-)4
-.
-S -.;.I.
-,-... ,;‘va.
‘ :-:
--.
-Fic. 5. Photomicrograph of section of subcutaneous
cord or fibrous hand which ran along free edge of
FIG. 6. Diagram of relationship of fibrous band, fibroniuscular septac, sciatic nerve, and vtsscls (modified from Champion and Cregan’).
tions, suggesting dominant inheritance.
X-linked inheritance can be ruled out on the
basis of male-to-male transmission.3 In the
case of Champion and Cregan,4 the cleft lip
in the grandfather may not have been
caused by the same gene. To suggest that
the syndrome is inherited as an autosomal
dominant trait with incomplete penetrance
and variable expressivity slights the fact
that so few cases were observed in
succes-sive generations. However, since so few
cases have reproduced, it is impossible to
make a judgment regarding this point.
Nev-ertheless, this would seem to be the most
likely explanation.
ADDENDUM
Since this report was submitted, the authors have
had the opportunity to see a newborn female
in-fant who presented with bilateral popliteal
ptery-gium, ankloblepharon filiforme adnatum,
bilat-eral syndactvlv between toes 4 and 5, bilateral
agenesis of nails on toes 3, hpoplasia of the labia
majora, multiple fibrous bands between the jaws,
and cleft of the entire secondary palate.
The child was the fifth of ostensibly normal
par-ents. There was no history of similar anomalies in
the siblings or other relatives, and there were no previous miscarriages.
Also of great importance is the recent report of
Hecht and Jarvinen, illustrating this syndrome in
several members of three generations.
SUMMARY
A syndrome consisting of popliteal
pter-vgium, cleft lip-palate, lower lip pits,
an-kyloblepharon fihiforme adnatum, and
geni-tal and digital anomalies is presented under
the name of its most striking facet as the
popliteal pterygium syndrome and a case is
presented. The hereditary pattern appears
to be that of an autosomal doi. inant trait
with incomplete penetrance and variable
expressivi ty.
REFERENCES
1. Matolcsy, T. : Uher die chirurgiscbe
Behand-lung der angeborene Flughaut. Arch. Klin.
Chir., 185:675, 1936.
2. Kopits, E. : Die als “Flughaut” bezeichneten
Missbildung und deren operative
Behand-lung. Arch. Orthop Unfallchir., 37:539, 1937.
3. Lewis, E. : Congenital webbing of the lower
limbs. Proc. Roy. Soc. Med., 41 :864, 1948.
4. Champion, R., and Cregan, J. C. F. :
Con-genital popliteal webbing in siblings:
Re-port of two cases. J. Bone Joint Surg., 41-B: 355, 1959.
5. Rosselli, D., and Culienetti, R. : Ectodermal
dysplasia. Brit. J. Plast. Surg., 14: 190, 1961.
6. Klein, D.: Un curieux syndrome h#{233}rlitaire:
cheilo-palatoschizis avec fistules de Ia l#{232}vre
inf#{233}rieure associ#{233}
a
une syndactlie, une onychodysplasie particuli#{232}re, un pt#{233}rygion poplit#{233} unilaterale et des pieds yams equins.J. Cenet. Hum., 11 :65, 1962.
7. Tr#{233}lat, U. : Sur Uil vice conformation tr#{232}s-rare (Ic la l#{232}vre-inf#{233}rieure. J. Med. Chir. Prat.,
40:442, 1869.
8. Wolff: Uber einen Fall von angeborener
Flug-hautbildung. Arch. KIm. Chir., 38:66, 1889.
9. Rdvgier, L. : Demonstration von Abbildungen
seltener Fiille von Missbildungen. Arch.
10. Basch, K.: (Then sogenannte Flughautbildung am Menschen. Prag. Med. Wchnschr., 16:
572, 1891.
11. Basch, K.: Em weiterer Fall von sog.
Flug-hautbildung. Prag. Med. Wchnschr., 17:287,
1892.
12. Fisher, H.: Em Fall von sogenannter
Flug-hautbildung zwischen Ober- und
Unter-schenkel. Prag. Med. Wchnschr., 18:579, 1893.
13. Hackenbroch, M.: Uber einen Fall von
kon-genitaler Kontraktur den Kniegelenke mit
Flughautbildung. Z. Orthop., 43:508, 1924. 14. Marquardt, W.: Die angeborene
Flughaut-bildung und thre konservative Behandlung.
z.
Orthop., 67:379, 1937.15. Aberle-Horstenegg, W.: Flughautbildung zwischen Ober- und Unterschenkel mit
abnormer Muskelsbildung (M. ischiosuralis).
z.
Orthop., 67:21, 1938.16. Schramm, C.: Uber die angeborene Flughaut-bildung. Z. Orthop., 70: 189, 1940.
17. Schonenberg, H.: Uber die Kombination von
Lippen-Kiefer-Gaumen-Spalten mit
Extremi-tatenmissbildung. Z. Kinderheilk., 76:79,
1955.
18. Dahmen, G. : tYber die Versorgung einer
doppelseitigen Kniestreckhemmung wegen
Flugelfell mit einem provisorischen
Knie-Ruhebein. Z. Orthop., 95:112, 1962.
19. F#{232}vre, M., and Languepin, A.: Les brides cruro-jambi#{232}res contenant le nerf sciatique.
Le syndrome bride poplitie et malformations
multiples (Division palatine, fistules de Ia
l#{232}vre inf#{233}nieure, syndactylie des orteils).
Presse med., 70:615, 1962.
20. F#{232}vre,M., and Languepin, A.: Brides popli-tees simples et brides poplit#{233}es avec quad-ruple syndrome. Ann. Chin. Plast., 11:124, 1966.
21. Gorlin, R. J., Sedano, H. 0., and ervenka, J.:
Personal observations.
22. Hecht, F., and Jarvinen, J. M.: Heritable dys-morphic syndrome with normal intelligence. J. Pediat., 70:927, 1967.
Acknowledgment
The authors are indebted to Wesley Burnham,
M.D., and Tague Chisolm, M.D., Minneapolis, Minnesota, for referral of the patient; and to Dr. V. Elving Anderson, Dight Institute, University of
Minnesota, Minneapolis, Minnesota, for critical
