(Received May 8; accepted for publication June 8, 1969.)
ADDRESS: (M.F.) Pediatric Service, New England Medical Center Hospitals, 171 Harrison Avenue,
Boston, Massachusetts 02111.
564
Murray Feingold, M.D., Frederic Shiere, D.D.S., Helmi R. Fogels, D.D.S.,
and David Donaldson, M.D.
From the Department of Pediatrics, Tufts University School of Medicine; Department of Pediatric
Dentistry, Tufts University Dental School; and the Department of Ophthalmology, Harvard Medical School, Boston
ABSTRACT. Three generations of a family with
Rieger’s syndrome are presented. Ocular and
den-tal abnormalities constitute the major
manifesta-tions. Hypodontia, microdontia, enamel hypoplasia,
missing teeth, peg-shaped teeth, and malocclusion
are frequent oral findings. Hvpoplasia of the
max-illa causes the mandible to appear prominent, giv.
ing the patient a prognathic appearance. Aniridia,
hpoplastic iris, and glaucoma are the major eye
problems. The propositus also has short stature and
decreased growth hormone levels which have not
been reported before in this syndrome. The
impor-tance of early diagnosis is stressed in order to
pre-serve the remaining dentition by proper dental
care and to be aware of the possibility of the
pres-ence of glaucoma, which should be treated as soon
as discovered. Pediatrics, 44:564, 1969, RIEGER’S
SYNDROME, OCULAR ANOMALIES, DENTAL ANOMALIES,
EYE ABNORMALITIES, TEETH, CONGENITAL
ABNOR-MALITIES.
T
HE major manifestations of Rieger’s syndrome, an autosomal dominantcon-dition, include hypodontia, microdontia, and abnormalities of the iris. To our
knowl-edge, it has not been reported in the
pedi-atric literature. It is important to diagnose
this condition in order to give proper
ge-netic advice, prevent eye complications, and provide early dental treatment.
In this report, a family with the
syn-drome is presented and the various mani-festations of the disorder are discussed.
CASE
HISTORIES
The propositus, R. \V., a 73i-year-old white
male, was referred to our Center for Genetic
Coun-seling and Birth Defect Evaluation because of short
stature and abnormalities of eyes and teeth. The
patient had been in good health except for these
abnormalities. He had been hospitalized for a
re-spiratory infection at age 3 years, a unilateral
in-guinal hernia with hydrocele repair also at age 3
years, and a tonsillectomy and adenoidectomy at
age 5 years. He had had the usual childhood
dis-eases.
Pregnancy and delivery were normal and his
birth weight was 8 lb, 1 oz. Development was
nor-mal. There are no available growth records, but his
mother states that he has grown very little during
the past few ears. Eye anomalies have been present
since birth but have not caused any symptoms.
Other members of the family have similar ab-normalities of eyes and teeth (Fig. 1). The father is of Irish extraction and the mother of Irish and
English extraction. The father is 5 ft, 3 in. and the
paternal grandmother is 5 ft, 1 in. in height. A
pa-ternal grandfather had late onset diabetes mellitus
and a maternal uncle developed diabetes mellitus
at age 44.
On physical examination, the child was well
below the 3rd percentile for height and weight
(his height was in the 50th percentile for a 33i
year old and his weight was in the 50th percentile for a 4 year old ). He had a normal facial
appear-ance, except for underdevelopment of the maxilla
(Fig. 2). His vision was 20/30 in the right eye and
20/40 in the left. The intraocular tension by
appla-nation was 14 mm Hg in the right eye and 28 mm
Hg in the left (normal, 22 ). Because of the
ele-vated tension in the left eye, antiglaucomatous
drops were administered and the tension returned
to normal. The right pupil (Fig. 3) was displaced temporally with another elliptical opening
extend-ing nasally. The remaining iris was thinned and
hypoplastic. In the left eye there was almost
corn-plete absence of the iris, with the pupil displaced
nasally. The entire central portion lacked iris
tis-sue. On gonioscopy the left eye showed the
re-maining iris to be adherent to the filtering
mesh-work.
All of the deciduous teeth and four permanent
molars were present on oral examination. However,
roentgenograms showed that nine permanent teeth
(five maxillary anteriors and four second
bicus-pids) were missing. The shape of the teeth varied
ARTICLES
I
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__
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#{149}:AFFECTED MALE, FEMALEO:UNAFFECTED MALE, FEMALE
FIG. 1. Family pedigree.
FIG. 2. Side view ( R.W. ) showing
underdevelop-ment of the premaxilla, giving a prognathic profile.
(Fig. 4). The lower deciduous incisors and cuspids
were peg shaped while the first permanent molars
were conical with an additional cusp. The teeth were small, with the mesiodistal crown diameter below normal. This was more striking in the per-manent dentition that in the deciduous. The roots, pulp, and resorption of the roots of the deciduous
teeth were within normal limits. The arch length
and width for both maxilla and mandible were
below the normal means for age and sex. The pre-maxilla appeared to be underdeveloped, giving the
mandible a prominent appearance, even though
there was no Class III malocclusion.
The remainder of the physical examination was
normal, except for a small umbilical hernia.
Normal laboratory data included CBC,
urinaly-sis, BUN, creatinine, cholesterol, PB!, urinary and blood amino acids, and skull X-ray. The bone age
was retarded ( 3 years, 6 months ). Growth
hor-mone levels were markedly decreased.
The 103i-year-old brother of the propositus,
D. W., has been in good health without any serious
illnesses, except for similar abnormalities of the
eyes and teeth. He was the product of a normal
pregnancy and delivery and his developmental
milestones were within normal limits. The eye
ab-normalities were noted at birth and he
subse-Fic. 3. R.W., right eye. The pupil is displaced
temporally (arrow) and there is a large hole in
the iris extending from the central to the nasal
I,..
I 4
I
/
Fic. 4. R.W. Small deciduous teeth varying in size.
quently developed glaucoma (the tension in the
right e’e was 35 mm Hg and 30 mm Jig in the
left). Presently he is doing well in school, although
he failed the second grade l)ecauSe of reading
dif-ficulties.
On physical examination, he was in the 35th
percentile for height and the 60th percentile for weight. Vision ill his right eye was 20/20 and in
the left eve it was 20/200. The pupillary opening
on the right was cry large, with only an
apprecia-ble amount of iris present from 12 to 3 o’clock. The
lens was normal. In the left eye (Fig. 5) there were two small pupillarv openings, one of which was
the true pupil at :3 o’clock and the other at 12
o’clock which appeared to be an area of iris
hypo-Fic. 5. D.W., left eye. The true pupil is displaced temporally (on the right side of the picture) and
there is mother pupillary opening superiorly. Also
present is a small anterior cataract centrally
(ar-row) and atrophic iris tissue.
plasia. In the central region of the iris, an anterior polar cataract was present; it extended through the markedly thin iris stroma. By gonioscopy the right eye showed a large band of transparent tissue from
12 to 3 o’clock attached to tile cornea. Other areas
also showed anterior insertion of the iris. Tension
by applanation in the right eye was 22 mm Hg
and in the left eye it was 18 mm 11g.
On oral examination several primary teeth and four first permanent molars were present. The pri-mary upper central incisors were congenitally
miss-ing, and two first primary molars had been
ex-tracted. (Fig. 6). Roentgenograms showed all of
the permanent teeth were missing, except for the
already erupted four first niolars, four first
bicus-pids, and four second molars. The crowns of the
first deciduous molars were conical in shape and
small. The remaining teeth were similar in shape.
Generally, the roots of all the permanent teeth
were short, while the pulp chambers were normal
in outline. There was normal root resorption of the
primary molar teeth, but the peg-shaped, lower
an-tenors had not started to resorb. The latter were
short with stubby roots but normal pulp chambers.
A bilateral cross bite with a slight open bite was
present. The mandibular deciduous molars on the
right were ankylosed. The premaxilla was
underde-veloped, but the palatal vault was of normal
con-figuration.
The 9-year-old male sibling of the propositus,
S. W., was also evaluated because of eye and
dental abnormalities. Pregnancy and delivery were
normal and his birth weight was 6 lb, 4 oz. Growth
and development were normal. The eye
abnor-malities caused photophobia and poor vision in the
right eye. He was said to be an average student.
On physical examination he was in the 20th
per-centile for height and the 50th percentile for
weight. The vision was 20/30 in the right eye and
the right eye was 16 mm Hg and in the left eye it was 18 mm Hg. In the right eye (Fig. 7) there
was a small pupil nasally and elsewhere only a
sniall PeriPI1er1l rim of iris. On the left there were
several pupillary openings with no clear-cut, true
pupil. The remaining iris was markedly
hypoplas-tic.
The four deciduous maxillary incisors vere
con-genitally absent. Tile four first Perfllallent molars and the mandibular lateral incisors were present.
Fifteen permanent teeth were missing (all four
second bicuspids and cuspids, the four upper
mci-sors, one second molar, and the lower central
mci-sors ). The posterior decidous teeth were conical in
shape and the anterior teeth were peg shaped. The
maxillary permanent molars were conical and had
five to six cusps; roentgenograms showed the other
permanent teeth to be normal in shape. The
decid-uous teeth, particularly those in the mandible,
were well below tile average mesiodistal
measure-ments. The permanent teeth were also smaller,
vith the molars almost 2 mm less in the
mesiodis-tal diameter than the reported normals.
Roentgeno-grams also showed the roots of the first permanent
molars to be short, with a low bifurcation and
presence of pulp stones in the mandibular root
canals. The resorption of tile deciduous teeth was
delayed. The measurements in arch length and
width were well below the normal for the age and
sex of the patient. There was a bilateral cross bite and a tendency towards Class III malocclusion.
The remainder of the physical examination was
within normal limits, except for an umbilical
her-nia.
The 32-year-old father was in good health and has had no serious illnesses, lie is employed as a sheet metal worker.
His physical examination included only an eye
Fic. 7. S.\V.. right (\i. The small puii is displaced nasally (arrow ) and there is onl a sniall rim of
iris peripherally, vith no iris tissue remaining in the central Portion.
and dental examination. I Ic was 5 ft, 3 in. tall.
Vi-sion on the right was 20/15 and 011 the left it was
20/40. Tension by applanation was 28 mm Jig in
the right e e and 30 mm Hg in tile left e e. Both
eves showed similar findings. The anterior chamber
was deep, and the iris was flat and atrophic. By
gonioscopy, remanents of iweai meshwork and
ab-normal vessels were present in the angle. In some
areas, the root of the iris inserted higher than nor-mal, especially in the left eye. The entire iris was
hvpoplastic in appearan.e (Fig. 8) and the
sphincter muscle was prominent. Because of the
el-evated tension, antiglaucomatous drops were
ad-nlinisterd and the tension in 1)0th eyes dropped to
14 mm fig 1w applanation.
Fic. 6. D.W. Congenitally missing, anterior permanent teeth, an anterior
FIG. 8. Father, right ee. The entire iris is hypo-plastic but there is a normal pupil centrally.
He could not suppiy any information concerning
his primary dentition. The permanent maxillary
an-tenors, lower anteriors, and all second bicuspids
were missing. These congenitally missing teeth
were replaced by partial dentures. The molars
were conical in shape and small in size, with both
arches smaller than normal. Profile of the face
showed a small premaxilla giving the appearance of prognathism.
The paternal grandmother, age 68, was not ex-amined, but it was reported that almost all of her
permanent teeth were congenitally absent. She also
had iris abnormalities and is presently being
treated for glaucoma. The paternal grandfather has no eye or dental abnormalities.
The mother of the propositus and his two female siblings had normal dental and eye examinations.
DISCUSSION
The ocular and dental abnormalities of Rieger’s syndrome are variable.18
Abnor-TABLE I
EYE ABNORMAL1TIE
Aniridia or hypoplastic iris Bands of iris stroma Iris coloboma (riaucoma Ectopic pupil Anterior polar cataracts Optic atrophy Micro or megalocornea Deep anterior chamber Strahismus
Pseuclohypei’telorisin
malities of the teeth include hypodontia,
microdontia, enamel hypoplasia, atypical shape
(
peg or conical shaped)
, decreasedarch length and width, and malocclusion. The maxillary incisors and second bicuspids are the most frequently missing teeth. Be-cause of hypoplasia of the maxilla, the man-dible appears to be prominent, giving the impression of prognathism. Dental treat-ment includes the restoration of all carious lesions and the utilization of dental prostheses to replace missing teeth. Patients with this syndrome should be seen at an
early age and on a regular basis for the maximum benefits of preventive dental
measures. The preservation of the
remain-ing dentition is extremely critical because
Of the large number of congenitally missing
teeth.
The various eye abnormalities are listed in Table I. Most frequent are iris
abnormal-ities: aniridia, hypoplastic iris and
forma-tion of anterior synechias. Glaucoma is a
comiiion complication and should he
treated promptly. Treatment of the iris
anomalies is unnecessary, except in rare
in-stances where there is no adequate central
pupillary opening.
Other associated abnormalities have
been reported, but their significance is not
known as most were present in single case
reports. They include arachnodactyly,
poly-dactyly, scoliosis, kyphosis, cardiac
malfor-mation, hydrocephalus, myotonic
dystro-phy, syringomyelia, muscular dystrophy,
imperforate anus, and umbilical hernia. Two of our three patients had umbilical hernias. Mental retardation has not been
re-ported.
The propositus had two growth hormone determinations and both were markedly de-creased. This is the first report of decreased growth hormone in children with Rieger’s syndrome and will be discussed in a sep-arate paper.
The syndrome is inherited as an
autoso-ma! dominant trait and is well demon-strated in our family. The eye findings, which are obvious at birth, should raise the
roentgeno-grams of the oral cavity will confirm the di-agnosis. Early management of the eye and
dental abnormalities should then be insti-tiited.
SUMMARY
Three generations of a family with Rie-ger’s syndrome are presented. Major mani-festations include iris abnormalities, glau-coma, hypodontia, microdontia, and other
eye and oral defects. The importance of
early diagnosis is stressed.
REFERENCES
1. Rieger, H.: bildugen 133:602,
Beitrage zur kenntnis selenter miss-der iris. Graefe Arch. Ophthal..
1935.
THE
MORALS
OF
YOUTH
IN
1805 AS DESCRIBED
IN AN
EDITORIAL
IN ONE
OF
OUR
MOST
RESPECTED
NEWSPAPERS
ARTICLES
56
2. Fails, H. F.: Genes producing various defects of
the anterior segment of the eve. Amer. J.
Ophthal., 2:41, 1949.
3. Gorlin, R.
J.,
and Pindborg, J. J.: Syndromes ofthe Head and Neck. New York:
McGraw-Hill, 1964.
4. Henkes, H. E.: Acquired corneai dystrophy.
Brit. J. Ophthal., 49:521, 1965.
5. Pearce, \V. G., and Kerr, C. B.: Inherited varia-tion in Rieger’s malformation. Brit. j. Oph-thaI., 49:530, 1965.
6. Reese, A. B., and Ellsworth, R. A.: Tile anterior chamber clevage syndrome. Arch. Ophthal.,
75:307, 1966.
7. Crawford, R. A. D.: Iris dvsgenesis with other
anomalies. Brit. J. Ophthal., 51:438, 1967.
8. Deimarcelle, Y.: Congenital glaucoma with
dominant hereditary associated with ocular
and somatic malformations (Rieger’s
syn-drome). Ann. Oculest (Paris), 201:132, 1968.
Since newspapers were first published in this
country, editorial writers have never seemed
to tire of writing about the moral deficiencies
of our young people. The quotation below, from an editorial published in a well-known newspaper in 1805, could have appeared (in a less ornate style) in the paper we read this morning.
To a person of reflection and sensibility, there cannot be a subject of more painful thought, than
that which the morals of our youth present. In many of them, we observe the brightest colours of
the human character almost totally eclipsed by the
foulest immoralities. We see them triumphing in
vice as a proof of distinguished spirit and
refine-ment, and permitting their passions to shoot wild
in all the dreadful luxuriance of folly and guilt.
Let us limit our remarks within a narrow sphere, and select from the cluster of youthful lusts, one
which is more fashionable and perhaps more
detri-mental to them, in every point of view, than any
other with which the present age is scourged: I mean the illicit indulgence of that passion which was given to us for the preservation of the human species. Considered merely with reference to this life, I know not a more deadly antidote to bliss than this lawless tyrant over man. How often does it dig the grave for genius and character! How are
all the energies of the mind unstrung by its excess;
all the affections of the heart deadened or
empoi-soned; every virtuous propensity put to flight, and
all the charms of chaste society lost and forgotten. NOTED BY T. E. C., Jn., M.D.
REFERENCES
1. The Spirit of the Public Journal; or Beauties of
the American Newspaper for 1805.
Balti-more: Doblin and Murphy, pp. 143, 144,
