Srinivas D. Hambire
Priyanka P. Bhavsar
Anagha V. Jayakar
From the Departments of Pediatrics and *Pathology,
Topiwala National Medical College and BYL Nair Charitable Hospital,
Mumbai 400 008, India.
Correspondence to: Dr. Priyanka P. Bhavsar, A/7
Chetan, Rajawadi Road, Ghatkopar (East), Mumbai 400 077, India.
Manuscript received: August 17, 2002; Initial
review completed: October 22, 2002; Revision accepted: February 21,
Fraser-Cryptophthalmos syndrome is a multiple malformation disorder
associated variably with cryptophthalmos(hidden eye), anomalies of the
head, nose and ears; syndactyly, renal and genital malformations. In
this report, we describe a case of Fraser syndrome with cardiovascular
malformations: coarctation of aorta, an association not previously
Key words: Frazer-Cryptophthalmos syndrome, Cardiovascular
Fraser-Cryptophthalmos syndrome is an autosomal
recessive(1), multiple malformation disorder; first described by
Zehender and Manz(2) in 1872 and further delineated by Fraser(3).
Cryptophthalmos (hidden eye) means failure of development of lid-folds
which may be associated with anomalies of the head, nose and ears;
syndactyly, renal and genital malformations. In this report, we describe
a case of Fraser syndrome with cardiovascular malformations; including
coarctation of aorta, an association not previously described.
The preterm (30 weeks) male, was the third child born
to nonconsanguinous Indian parents. The first was a full term normal
child, three years old. The second was a full term home-delivered fresh
stillbirth without history of obvious congenital malformations. Babyís
birthweight was 1.7 kg, head circumference 30 cm, total length 41 cm,
chest circumference 29 cm, abdominal girth 21 cm and upper segment:
lower segment ratio of 1.38 : 1.
The face revealed absence of eyelids and eyebrow over
the left eye (Fig.
1). It was completely
covered with skin; the globe was palpable underneath. Right eye showed
microphthalmia and enophthalmos. Nose was broad, flat with a depressed
nasal bridge and a groove present bilaterally on the external nares.
Ears were low set with nonpatency of the external auditory canal. There
was microg-nathia, high arched palate and a cleft in the hard palate.
Hands were flat, stubby with cutaneous syndactyly. Elbows showed
presence of webs and limited extension. Genital examination showed
rudimentary, empty scrotal sacs; with clinical patency of anal canal
found upto 0.5 cm.
Fig. 1. Fraserís syndrome showing typical facial
features and syndactyly.
Skeletal system revealed a right-sided thoracic
spinal scoliosis and bilateral con-genital talipes equinovarus. Systemic
examina-tion was unremarkable except hypotonia. Inspite of vigorous
resuscitation the baby expired within one hour of life. Significant
post-mortem findings included bilateral renal agenesis and cardiac
malformations; viz., bifid apex, large atrioseptal defect,
juxtaductal coarctation of the aorta, left superior vena cava draining
into the coronary sinus and a patent ductus arteriosus.
Fraserís syndrome is a well delineated multiple
malformation complex with a marked variability of expression. Thomas,
et al.(4) reviewed 124 cases of cryptophthalmos in literature and
assigned minimal diagnostic criteria to designate Fraserís syndrome.
This included two major and one minor criteria or one major and four
minor criteria for diagnosis. Major criteria include cryptophthalmos,
syndactyly, abnormal genitalia, and a sibling with cryptophthalmos
syndrome. Minor criteria comprise of anomalies of ear, nose or larynx,
cleft lip and/or palate, skeletal defects, umbilical hernia, renal
agenesis, and mental retardation.
Our patient definitely fulfilled two of the major
criteria and five of the minor criteria. Regarding abnormal genitalia,
empty scrotal sacs could be normal for the gestational age and there was
a possible anal stenosis. Also, cause of stillbirth in the second
sibling was not known. In addition, he also had cardiovascular
mal-formations, which are unusual. Gattuso, et al.(5) reported
dextrocardia; and their literature review reported 3 other cases having
univentricular heart, atrial septal defect and ventricular septal
defect. Ali, et al.(6) reported a newborn with Fraser syndrome,
born of consanguinous Saudi parents, having cardiac malformations (TAPVR
and pericardial effusion) diagnosed on fetal echocardiography. Our case
had multiple cardiovascular mal-formations, including coarctation of
The pathogenesis of this syndrome appears to be
related either to a failure of programmed cell necrosis(7) or a defect
in the metabolism of retinoids(8). There is no treatment available if
renal agenesis is present. Prognosis is excellent if cryptophthalmos is
the main abnormality, but visual acuity is likely to be poor even after
surgical correction. Although abnormalities of the ear are common,
hearing is usually normal in many cases(5). Severe bilateral renal
dysplasia or agenesis implies no prospect for survival. Also, cardiac
malformations, as seen in our case, carry grave prognosis. Prenatal
diagnosis includes a combination of ultrasound and fetoscopy(9), though
prevention by genetic counseling would be the best approach.
The authors acknowledge and thank our Dean, Dr. S.A.
Dahanukar for granting us permission to publish the case report.
Contributors: SDH contributed in data collection.
PPB reviewed the literature, drafted the manuscript and will act as
guarantor. MB contributed the autopsy diagnosis. AVJ helped in revision
of the manuscript and final approval of the version submitted.
Competing interests: None stated.
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newborn. Ann Saudi Med 1999; 19: 357-358.
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