Vol. 19 No. 2, June 2004
Tanzania Medical Journal
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A CASE OF BEALS – HECHT SYNDROME IN AN AFRICAN NEONATE
KP Manji
Beals and Hecht described this syndrome in 1971,
whereby 11 probable past reports of the same entity
including the original Marfan report; in the year 1985; 29
other kindred’s were described in the literature.(1-4)
This is the third case from African kindred, revealed
during neonatal period. Two other have been reported from
South Africa.(5) Beals-Hecht syndrome is also known as
Congenital Contractural Arachnodactyly
(CCA) and is rare autosomal dominantly inherited
syndrome associated with a triad of arachnodactyly,
multiple congenital joint contractures, crumpled ears and
camptodactyly. Kyphoscoliosis usually is more evident the
child grows. The described anomalies include long slim
limbs
(dolichostenomelia)
with
arachnodactyly,
camptodactyly and ulnar deviation of fingers. Joint
contractures, especially of knees, elbows, and hands are
frequent. Other features include kyphoscoliosis, relatively
short neck and metatarsus varus. Hypoplasia of calf muscles
is very common. The ears are “Crumpled” in appearance
with poorly defined conchas and prominent crura from the
root of the helix.
Cardiac abnormalities include atrial septal defect,
ventricular septal defect or hypoplasia of aorta. pulmonary
stenosis or mitral valve prolapse. Occasionally there is
micrognathia. Iris coloboma and subluxation of patella.
The natural history in most cases tends to be gradual
improvement in the joint limitations, but the scoliosis may
be progressive. (1-4)
Clinically the cardiac examination was normal and a
screening Echocardiography of the neonate was normal.
However, some cardiac manifestations may be more evident
in course of time, and thus a follow-up is required. There
were no ocular abnormalities clinically and by fundoscopy.
Figure 1. Arachnodactyly and wide-spaced nipple with
contracture of elbows
Case
WM was born to non-consanguineous parents. This is
the 3rd sibling. Other siblings are live and well. The
antenatal and delivery history was uneventful with APGAR
scores of 7 at 1min and 10 at 5 min. The birth weight was
3.1 kgs. There was slight difficulty in feeding on first 2
days, but was able to breast feed normally thereafter.
Correspondence to: Manji KP, Box 65001, Muhimbili University College of Health
Sciences
Dept. of Paediatrics/Child Health
The head circumference was 35cm. The length was
difficult to measure, as there were contractures of the knees;
however it was estimated to approximately 54 cm. Of note,
he had a moon-shaped opening of mouth, with small chin
(micrognathia); the palate was normal. WM had significant
arachnodactyly. The middle-finger length was 4 cm (beyond
97th centile) and middle-finger to total hand ratio was 0.6
(normal 0.38 – 0.48).(6)
There were contractures of these long arachnodactyly
fingers and contractures of knees and elbows. The ears were
typically crumpled. Additional features in this child were
nuchal edema and wide spaced nipples, adducted thumbs,
ulnar deviation of fingers, Equino-valgus with prominent
tarsal bones, and underdeveloped calf muscles. (Figures 14).
Figure 2. Crumpled Ear
Vol. 19 No. 2, June 2004
Tanzania Medical Journal
2
for neonates and also to identify whether there are any
causative factors prevalent.
References:
1.
2.
3.
4.
5.
6.
7.
Figure 3. Knee contracture and prominent tarsus bone with
hypoplasia of calf muscle.
8.
9.
Figure 4. Arachnodactyly with hook-like contracture
ofindex
finger and crescent (moon) like mouth
Discussion
This case is presented, because the phenotype of BealsHecht syndrome and its various additional features may help
in pointing out the causality of the condition. Although it is
known that this is an autosomal dominant disorder caused
by mutation in fibrillin 1 and 2 genes (FBN 1 and 2), that is
phenotypically similar to Marfans syndrome.(7)
The hall-mark of crumpled ears is related to the
variable expression of FBN 2 in ear cartilage. Rare
associations such as ankyloblepharon, duodenal atresia,
hypospadius and ambiguous genitalia may occur. Reporting
such additional features may enlighten geneticist to look for
author causal factors. This child had nuchal edema and
widespread nipples and small moon-shaped mouth. The
disease runs a benign course and with time spontaneous
improvement occurs of joint contractures occurs. The
kyphoscoliosis may progress in 50% of cases, and early
recognition is useful for preventing disability. (2, 8)
The mandibular ankylosis needs to be kept in mind in
children who may require anesthesia.(9) There have been
anecdotal similar cases in our set-up, this is the 3rd African
child in the available reports. This rare occurrence in
African children maybe due to under-recognition or due to
differences in genetics. This information as case report is
useful to raise awareness among medical personnel caring
Beals R K, Hecht F. Delineation of another heritable disorder of connective
tissue J. Bone Joint Surg. (Am). 1971; 53: 987.
Hecht F, Beals RK. “New” syndrome of congenital contractural arachnodactyly
originally described by Marfan in 1896. Pediatrics. 1972; 49:574-579
Anderson RA, Koch S, Camerini-Otero R D. Cardiovascular findings in
congenital contractural arachnodactyly: Report of an affected kindred. Am J
Med Genet. 1984; 18:265
Ramos-Arroyo MA, Weaver DD, Beals RK. Congenital contractural
arachnodacyly. Report of four additional families and review of literature. Clin.
Genet. 1985;27:570-81
Wainer S, Vos ET. Congenital contractural arachnodactyly in a black African
kindred. Cent Afr J Med. 1991;37(8):262 – 4
Feingold M, Bossert WH. Proportion (percent) of middle-finger to hand length.
Birth Defects Orig Artic Ser. 1974; 10(13): 1-16
Courtens W, Tjalma W, Messiaen L, Vamos E, Martin JJ, Van Bogaert E et al.
Prenatal diagnosis of constitutional interstitial deletion of chrosomoes
5(q15q31.1) presenting with features of congenital contractural arachnodactyly.
Am J Med Genet 1998; 77: 188-197.
Viljoen D. Congenital Contractural arachnodactyly (Beal syndrome). J Med
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Nagata O, Tateoka A, Shiro R, Kimizuka M, Hanaoka K. Anesthetic
management of two pediatric patients with Hecht Beals syndrome. Pediatr
Anaesth 1999; 9: 44-47.