American Journal of Medical Genetics 45416-419 (1993)
Brachymesomelia and Peters Anomaly: A New Syndrome J a n e D.
Kivlin, J o h n C. Carey, and Mark A. Richey Departments of
Ophthalmology (JJ).K., M.A.R.) and Pediatrics (J.C.C.), University
of Utah School of Medicine, Salt Lake City, Utah
We report on a child with an unusual meso- melic bone dysplasia
and Peters anomaly. While there is some resemblance to the radio-
graphic findings and corneal clouding de- scribed by Pillay in the
OMMD (ophthalmo- mandibulo-melic dysplasia) syndrome, there are
also differences. The several syndromes that combine
brachymesomelia and corneal clouding are discussed. o 1993
KEY WORDS: Peters anomaly, mesomelic dysplasia, corneal
INTRODUCTION Mesomelic dysplasia and Peters anomaly are both
rare conditions. We present a patient with brachy- mesomelia and
Peters anomaly and review the perti- nent syndromes.
CLINICAL REPORT A 2-day-old girl was referred to the University
Utah for examination of corneal clouding and multiple congenital
anomalies. The patient was a term baby of a normal pregnancy with
no known drug exposure. The delivery was complicated by meconium
aspiration and initial respiratory distress (Apgar scores 2 and 3).
The patient's mother, a 20-year-old healthy primagravida, has a
relatively small mandible and a prominent elbow point, but both are
thought to be normal variants. Roentgenograms of the mother's upper
limbs were nor- mal, without radial bowing, ulnar shortness, or
Mad- elung deformity. The father is healthy and had a nor- mal,
unaffected daughter from a previous marriage. Both parents have
normal eyes. Other family history included a paternal uncle with
mental retardation, and a maternal cousin with inwardly turned
feet. There was no family history of eye problems, including
glaucoma. There was no consanguinity.
Received for publication December 3, 1990; revision; received
August 21, 1992.
Address reprint requests to Jane D. Kivlin, M.D., a t her
present address: Eye Institute, Medical College of Wisconsin, 8700
W. Wisconsin Avenue, Milwaukee, WI 53226.
0 1993 Wiley-Liss, Inc.
The patient's birthweight was 2,880 g (lo%), and OFC 36.5 cm
(90%). Her length was 45.5 cm (< 2%), and her upper to lower
segment ratio was 2.03 (normal is 1.7). Her skull was elongated,
with a flattened forehead and double hair whorls. Her mandible was
normal; her ears were asymmetrical, the neck was short, and the
nipples were widely spaced. The distal limbs were notably short,
consistent with mesomelic dysplasia.
Upper limb findings included elbow extension limited to 150" and
ulnar hand deviation. The hands were of normal size. The fourth
finger showed camptodactyly, and the fifth finger was rotated along
the long axis and turned toward the palm. The thumb was long, with
decreased thenar eminence. In the lower limbs there was decreased
muscle mass, with limitation of extension at the knees to 160". The
patient also had bilateral hip dislocation and talipes equinovarus
with cavus defor- mity. The films showed a short and bowed radius
and a markedly short, thickened ulna (Fig. l), confirming the
presence of mesomelic dysplasia. The tibia and fibula were
relatively short, but not to the extent seen in the ulna (Fig. 2).
Other roentgenograms including spine and pelvis were normal.
Ocular examination showed bilateral corneal cloud- ing, which
was more severe on the left (Fig. 3A,B). The corneal diameters were
approximately 11 mm (irregu- lar limbal region), within normal
limits. Intraocular pressure was elevated in the borderline range
at 24 mm Hg on the right and 29 mm Hg on the left with a Schiotz
tonometer. The eyes were further examined under gen- eral
anesthesia. The right eye had a large peripheral corneal opacity
with associated anterior iris synechiae. The right eye was
otherwise normal, with a clear central cornea, deep anterior
chamber, clear lens, and normal fundus. The left eye had a large
ring of dense opacity with areas of broad peripheral anterior
synechiae. The central cornea was extremely hazy, preventing a good
view of the fundus. The clear lens was not attached to the cornea.
Gonioscopy showed iris strands extending up to Schwalbe's line and
to the cornea. The corneal and ante- rior chamber anomalies were
consistent with Peters anomaly.
A 6 mm penetrating keratoplasty was performed on the patient's
left cornea to restore vision when the pa- tient was 18 days old.
The iris could not be separated from the corneal opacity, and much
of the central iris was removed.
Peters Anomaly 417
Fig. 1. Radiograph of the right upper limb, showing bowing and
shortness of the radius and marked shortness and distinct
thickening of the ulna.
The corneal graft has remained clear without rejec- tion.
Intraocular pressure has remained in the bor- derline range, and
the optic nerves have remained nor- mal. Because she was very
hyperopic (+7.25 right, +7.50 + 5.00 x 70 left) at age 4, glasses
were pre- scribed, but she has been reluctant to wear them. Visual
acuity at age 6 years was 20/40 OD and 20/70 0s. Since the optical
axis of each eye is clear and she does not have strabismus, her
visual loss is probably due to depriva- tion amblyopia in each eye,
worse on the left. Treatment is still in progress.
Psychomotor development is normal, and she is a bright child
with normal intelligence. On follow-up ex- ams, disproportionate
short stature with brachy- mesomelia has persisted (Fig. 4). At age
3.5 years, her height was 79.6 cm (height age 17 months), her span
was 67 cm, and her OFC was 50.6 cm (50%).
Ocular Pathology Light microscopy of the left cornea showed a
cellular stroma and an area of complete absence of Des-
Fig. 2. Radiograph of the left lower limb, showing shortness of
tibia and fibula without bowing.
cemets membrane and endothelium, diagnostic of Pe- ters anomaly.
Bowmans membrane was thickened, at the junction of the peripheral
opacity and the central somewhat clearer cornea, to 16-22 pm
(normal 10 pm, range 8-14 pm [Spencer, 1985; Kayes and Holmberg,
196011, but tapered centrally until it was absent. Where it was
absent, the corneal stromal keratocytes extended up to the
epithelial basement membrane. These find- ings in Bowmans membrane
in Peters anomaly have been reported previously [Fogle et al.,
1978; Kenyon, 19751.
DISCUSSION Mesomelic dysplasia syndromes can be categorized
into numerous types, each representing different radio- graphic
and clinical findings [Taybi, 19831. In reviewing the radiographic
manifestations in these different types, we found the mesomelic
dysplasia in our patient to be unique, particularly the dysplasia
involving the forearm with its unusual radial bowing, as well as
the shortness and distinctive thickening of the ulna. Be-
418 Kivlin et al.
Fig. 4. The patient at age 12 months.
Fig. 3. A Right eye. Note large peripheral corneal opacity with
anterior iris synechia. B. Left eye. Note dense ring opacity of the
cornea with less dense central area.
cause of these radial and ulnar findings, we can elimi- nate the
more common syndromes of mesomelic dyspla- sia from the
differential diagnosis. The association of mesomelic dysplasia with
congenital corneal clouding has been reported in the 5 conditions
listed below. We have not included the SC or pseudothalidomide syn-
drome because it is a malformation syndrome rather than
osteochondrodysplasia, and corneal opacification is not consistent
[Herrmann et al., 19691.
1. Brachymesomelic-renal syndrome is characterized by shortness
of the forearm and shank, and radial and ulnar bowing, with ulnar
deviation (mesomelic dyspla- sia), glomerulocystic renal dysplasia,
corneal opacities, and abnormalities of the vertebral bodies,
cranium, and face [Langer et al., 19831. Death in early infancy
results from renal failure. Our patient has had no renal abnor-
malities, nor was her facial appearance similar to that seen in
2. Acromesomelic dysplasia includes several forms of short-limb
dwarfism in which the shortness affects the forearms and legs, as
well as the hands and feet [Ohba et al., 1989; Reinhardt and
Pfeiffer, 1967; Borrelli et al., 1983; Langer et al., 1977, 1989;
Brahimi et al., 1988; Maroteaux et al., 19711. Of the subtypes of
mesomelic dysplasia, only the Langer type [Langer et al., 19771
has a forearm similar to that of our patient [Hall et al., 1980;
Langer et al., 1977; Espiritu et al., 19751. However, our patient
had normal-size fingers and a very different shank. Infrequently,
corneal opacities have been described in the Langer type, but the
descrip- tions have not been consistent with Peters anomaly [Langer
et al., 19773.
The forearm of 2! patients described by Fryns et al. [19881 is
similar but the patients did not have leg in- volvement and thus,
were ofnormal height They also did not have apparent eye
3. Mietens syndrome shows a clinical pattern of men- tal
retardation, growth failure, flexion contracture of the elbows,
abnormally short ulnae and radii, bilateral cor- neal opacities,
nystagmus, strabismus, and a small pointed nose [Mietens and Weber,
1966; Waring and Rodrigues, 19801. However, the corneal opacities
in this syndrome have been characterized as sclerocornea [Waring
and Rodrigues, 19801. And, while the forearm bones in this syndrome
are short, they do not show the bowing or distinctive ulnae seen in
our patient [Mietens and Weber, 19661.
4. Short-limb dwarfism with Peters anomaly is an autosomal
recessive disorder with distinctive face and rhizomelic dwarfism
[Frydman et al., 19911. While the upper limbs are short, they are
not bowed. Peters anom- aly has been demonstrated
histopathologically. The fa- cial appearance is different from that
of our patient. 5.Ophthalmo-msmdibulo-melic dysplasia (OMMD) is
an autosomal dominant condition with congenital cor-
Peters Anomaly 419
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Herrmann J, Feingold M, Tuffli GA, Opitz JM (1969): A familial
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neal opacification and varying degrees of mandibular and
mesomelic limb shortness. The only report of this syndrome was by
Pillay [19641 of a man and his son and daughter. The short ulna and
short, bowed radius in this family were unique. The tibiae and
fibulae were also moderately short, but not bowed. The corneal
opacities were bilateral in the 3 cases, with complete
opacification in the father and daughter, and peripheral
opacification with some central vision in the son. Through a clear
portion of cornea in the son, remnants of the pupillary membrane
could be seen. Histopathologic examination of the cornea was not
done; however, the clinical findings are compatible with Peters
anomaly. However, unlike our patient, Pillays patients had
micrognathia with obtuse angles of the jaws and temporomandibular
joint fusion, and apparently normal height.
While the findings of our patient most closely resem- ble those
of the patients described by Pillay and Langer, there are some
differences. With small numbers of pa- tients, it is not possible
to know the full range of findings in a syndrome. The inheritance
of our patients condition is also not known.
ACKNOWLEDGMENTS This study was supported in part by an
grant from Research to Prevent Blindness, Inc., New York, NY, to
the Eye Institute, Department of Opht,hal- mology, Medical College
of Wisconsin, Milwaukee, WI.
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