American Journal of Medical Genetics 75:256–260 (1998)
SAMS: Provisionally Unique Multiple Congenital
Anomalies Syndrome Consisting of Short Stature,
Auditory Canal Atresia, Mandibular Hypoplasia, and
Skeletal Abnormalities
Edmond G. Lemire,1,2 G. Elske Hildes-Ripstein,1 Martin H. Reed,1,3 and Albert E. Chudley1,2*
1
Department of Pediatrics and Child Health, Univeristy of Manitoba and Health Sciences Centre,
Winnipeg, Manitoba, Canada
2
Department of Human Genetics, University of Manitoba and Health Sciences Centre, Winnipeg, Manitoba, Canada
3
Department of Radiology, University of Manitoba and Health Sciences Centre, Winnipeg, Manitoba, Canada
We report on a young Mennonite child born
with short stature, atresia of the external
auditory canal, mandibular hypoplasia, and
skeletal anomalies. The skeletal defects con-
sist of bilateral humeral hypoplasia, de-
layed ossification of the pubic rami, and the
previously unreported anomaly of humer-
oscapular synostosis. This girl is the prod-
uct of a consanguineous mating. This phe-
notype is unique and does not match that of
any previously described condition. Am. J.
Med. Genet. 75:256–260, 1998.
© 1998 Wiley-Liss, Inc.
KEY WORDS: multiple congenital anoma-
lies; external auditory canal
atresia; mandibular hypopla-
sia; humeroscapular synosto-
sis
INTRODUCTION
We report on a young Mennonite child with multiple
congenital anomalies born to consanguineous parents.
The constellation of clinical features appears to be
unique and does not match any previously reported
multiple congenital anomalies syndrome.
CLINICAL REPORT
This 9-year-old girl is the youngest of six children
born to consanguineous (11⁄2 cousins) Mennonite par-
ents. Her five older sibs and her parents are all phe-
notypically normal and healthy. She was born at term
*Correspondence to: Dr. Albert E. Chudley, Section of Genetics
and Metabolism, Children’s Hospital, 840 Sherbrook St., Room
FE-229, Community Services Building, Winnipeg, Manitoba,
Canada, R3A 1S1. E-mail: chudley@cc.umanitoba.ca
Received 13 November 1996; Accepted 16 June 1997
© 1998 Wiley-Liss, Inc.
in a Mexican hospital to a 32-year-old mother and a
37-year-old father. Her birth weight was approxi-
mately 3 kg. Pregnancy was reportedly unremarkable.
The mother denies exposure to known teratogens.
At birth, bilateral aural atresia and short humeri
with restricted shoulder movement was noted. She was
discharged from hospital on day 2 of life. There were
neonatal feeding difficulties due to a poor suck. She
had a history of recurrent respiratory tract infections
and was treated for pneumonia at age 8 or 9 months.
Review of systems was normal apart from her long-
standing swallowing difficulties that caused her to
choke easily on solids, hearing loss, and restricted
shoulder movements.
Her psychomotor development was delayed. She sat
at 9 months, walked at 19 months, spoke her first
words at 24 months, and talked in sentences by 5 years.
Continence was achieved during the third year. There
was no evidence of regression. The patient is currently
in an ‘‘English as a second language’’ program. She is
functioning as an average student at a grade 2 to grade
3 level. She now wears a bone conduction hearing aid at
school, but functions well without it at home.
On physical examination, at her initial visit, she pre-
sented as a small 8 4/12-year-old child with an unusual
facial appearance (Fig. 1). She had apparent hypo-
telorism of deeply set eyes with downslanting palpe-
bral fissures, malar hypoplasia, micrognathia and a
small mouth with prominent incisors (Fig. 1). Height
was 107.5 cm, weight 15 kg, and OFC 49 cm. (all <5th
centile; Fig. 2). At 9 1/12 years, growth parameters
were <5th centile. She had a high-arched palate with
crowding of teeth and a short frenulum. The ear pinnae
were simple and dysplastic; both ear canals were
atretic (Fig. 3). Humeri were short with winged scapu-
lae and a lumbar hyperlordosis (Fig. 2). She had re-
stricted range of motion of both shoulders. All motion
was due to scapulothoracic movement. She had some
degree of flexion contracture at the hips and the feet
easily rolled into valgus. Labia majora and minora
were hypoplastic. Cognition and behavior appeared
 Fig. 1. a, b: Close-up of face showing deep-set eyes, downslanting palpebral fissures, hypotelorism, malar hypoplasia, micrognathia, and small mouth
with prominent incisors.

Fig. 2. a, b: Full body views showing rhizomelic shortening of upper limbs, winged scapulae and short stature.
258 Lemire et al.

markable. She had normal palmar triradii and the fin-

gerprint pattern on the right hand was twin loop,
simple arch, ulnar loop (UL), whorl (W) and UL, while
on the left hand the pattern was UL, radial loop, tented
arch, W and UL.
Skeletal radiographs showed severe mandibular hy-
poplasia, bilateral scapulohumeral fusion, short hu-
meri with some distal metaphyseal flaring (Fig. 4).
There was a metacarpal sign on the right and mild
shortness of the ulnae (not shown). The carpal length
was very short, about three standard deviations below
the mean for chronological age [Poznanski et al., 1978].
Complete failure of ossification of both pubic bones and
the very small sacro-sciatic notches are evident on the
radiograph (Fig. 5). Both hips were centrally dislocated
(Fig. 5). The proximal femoral epiphyses were very
poorly ossified, and slightly irregular and flattened; the
femoral necks were short and wide (Fig. 5). There was

Fig. 3. a, b: Close-up of ears showing simple, dysplastic pinnae with

atretic ear canal.

appropriate for age, but the language barrier pre-

vented a more thorough investigation at the initial
visit. In follow-up, the patient’s receptive and expres-
sive language had improved greatly, but still appeared
delayed for chronological age. Cardiovascular, abdomi- Fig. 4. Radiograph of right humerus showing scapulohumeral synosto-
nal, neurological, and integument findings were unre- sis, shortened humerus and distal humeral metaphyseal flaring.
 SAMS: Multiple Congenital Anomalies Syndrome
a mild degree of ‘‘ball in socket’’ deformity of both ankle
joints, and the ossification centres for the calcaneal
apophyses appeared unusual. A CT scan of the skull
confirmed bilateral aural atresia and small abnormally
formed and aligned middle ear ossicles. Abdominal ul-
trasound findings were unremarkable. A hearing test
confirmed conductive hearing loss.
Chromosomes (400 band level of resolution) were
normal 46,XX. Cultures in diepoxybutane showed no
evidence of excess chromosome breakage when com-
pared to control cultures. The family history is essen-
tially unremarkable.
DISCUSSION
We report on one child with an unusual combination
of anomalies affecting skeletal and craniofacial struc-
tures including bilateral aural atresia that is previ-
ously undescribed. Aural atresia without concomitant
microtia is unusual. [Carey, 1993; Allanson, 1994]. Ra-
diological anomalies, such as limb defects, have been
seen with aural atresia in Goldenhar syndrome [Carey,
1993; Allanson, 1994]. However, delayed ossification of
the pubic rami and humeroscapular synostosis have
not been reported in association with aural atresia.
Delayed ossification of the pubic rami is not a com-
mon radiological finding in itself, but in association
with aural atresia, is extremely rare [only coxoauricu-
lar syndrome listed in P.O.S.S.U.M., 1994]. Humer-
259
Fig. 5. Radiograph of pelvis
showing no ossification of the pubic
bones, small sacro-sciatic notches,
central dislocation of the hips,
poorly ossified, slightly irregular
and flattened femoral epiphyses,
shortened and widened femoral
necks.
oscapular synostosis is not included among the search
traits in either P.O.S.S.U.M. [1994], OSSUM [1994], or
the London Dysmorphology Database [1993].
We considered in the differential diagnosis mandibu-
lofacial dysostosis, Nager syndrome, oculoauriculover-
tebral dysplasia (OAVD), and coxoauricular syndrome
[Gorlin et al., 1990; Allanson, 1994]. However, this
child has features not previously reported in any of the
above-mentioned conditions. We believe she has a pro-
visonally unique disorder. Both autosomal recessive in-
heritance or a new autosomal dominant mutation are
plausible. The specific nature of the embryological de-
fect is unknown. However, it appears to be acting some-
time between the fourth and eighth weeks of embryonic
development when skeletal and craniofacial structures
are being formed [Lewis, 1901; Moore and Persaud,
1993]. It is hoped that additional reports of similarly
affected individuals will help clarify the genetic basis of
this condition.
REFERENCES
Allanson J (1994): Genetic hearing loss associated with external ear ab-
normalities. In Gorlin RJ, Toriello HV, Cohen MM Jr. (eds): ‘‘Oxford
Monographs on Medical Genetics No. 28: Hereditary Hearing Loss and
its Syndromes.’’ New York:Oxford University Press, pp. 62–104.
Carey JC (1993): External ear. In Stevenson RE, Hall JG, Goodman RM
(eds): ‘‘Oxford Monographs on Medical Genetics No. 27: Human Mal-
formations and Related Anomalies Vol. II.’’ New York:Oxford Univer-
sity Press, pp. 193–219.
260 Lemire et al.
Gorlin RJ, Cohen MM Jr, Levin LS (1990): ‘‘Oxford Monographs of Medical
Genetics No. 19: Syndromes of the Head and Neck.’’ (3rd ed) New York:
Oxford University Press, pp. 641–691.
Lewis WH (1901): The development of the arm in man. Am J Anat. 1:145–
184.
London Dysmorphology Database (LDDB) Version 1.2 (1993): Oxford:Ox-
ford University Press.
Moore KL, Persaud TVN (1993): ‘‘The Developing Human: Clinically Ori-
ented Embryology.’’ (5th ed) Philadelphia: W.B. Saunders Co., pp. 186–
225, 354–369, 375–384, 423–442.
OSSUM: An Illustrated Database of Skeletal Dysplasias, Version 2.0
(1994): Melbourne:The Murdoch Institute for Research into Birth De-
fects.
Pictures of Standard Syndromes and Undiagnosed Malformations
(P.O.S.S.U.M.), Version 4.0 (1994): Melbourne: Computer Power Group
and The Murdoch Institute into Birth Defects.
Poznanski AK, Hernandez RJ, Guire KE, Bereza UL, Garn SM (1978):
Carpal length in children—A useful measurement in the diagnosis of
rheumatoid arthritis and some congenital malformation syndromes.
Radiology 129:661–6688.