Cryptophthalmos (CO)
is defined as a set of rare congenital eyelid defects in which the lid folds
are unable to divide in the embryo and the skin extends continuously from the
forehead onto the cheeks covering the eyes.1-3 CO maybe bilateral or
unilateral and fluctuates in severity from the presence of rudimentary,
distorted eyelids to complete absence of eyelids2. Autosomal
recessive and autosomal dominant inheritance have been reported, but most cases
are autosomal recessive.4-8
CO is of three clinical types:
·
Complete
·
Incomplete
·
Abortive2,3
CO is termed as Cryptophthalmos Syndrome
or Fraser Syndrome because in most cases it is usually associated with other
malformations or systemic findings. However, it can also be isolated.2-8
Fraser Syndrome (FS) is a rare congenital autosomal recessive disorder,4-8 the prevalence of which is
estimated to be 0.43 per 100,000 live births and 11.06 per 100,000 stillbirths9.
The first case of FS as described by Zehender and
Coworkers (1872).2,5,8,12
We will be presenting a case of unilateral cryptophthalmos
with Fraser Syndrome.
CASE REPORT
The patient is a 20 days old female. She is the 4th
child of healthy parents. Her three older siblings are normal with no
congenital malformation. The infant is full term and delivered by spontaneous
vaginal delivery which was eventless. The baby weighed 2900 grams at birth and
exhibits normal feeding manner.
Clinical evaluation exhibits complete absence of right side eyelid
formation with absent eyelashes. The skin is continuous from the forehead to
the cheek, covering the entire globe. The temporal hairline is abnormal growing
down towards the cheek on the right side. A small palpable globe is felt
beneath the skin and the orbit is shallow with a deficient orbital rim. There
is complete Cryptophthalmos of the right side but the
left eye is normal, with properly formed lids, lashes and eyeball (Fig. 1).
Pupillary reflex, IOP and fundus examination are normal on the left side.
The nose has a wide nasal bridge but is flat. Hypertelorism
is also present in the subject (Fig. 1). Distortion is present on the right of
the face (Fig. 1).
Other findings that are noted includes:
·
Mild brachydactyly of hands (Fig. 2).
·
Cutaneous syndactyly of both feet (Fig.
3).
·
External genitalia and ears are normal and the patient does not
exhibit any other systemic malformations.
Fig. 1: Cryptophthalmos with
Hypertelorism
Fig. 2: Mild Brachydactyly of Hands
Fig. 3: Cutaneous Syndactyly of Feet
DISCUSSION
The
findings present in this case are consistent with the Fraser Syndrome (FS)
according to the diagnostic criteria proposed by Thomas (1986) (Table 1).5,
7, 8, 10
For the diagnosis, following requirements must be met:
·
2 major and 1 minor criteria.
·
1 major and 4 minor criteria.5, 7-9
In this case study, diagnosis is made on the following basis:
·
CO and syndactyly as major criteria.
·
Malformations of the nose as minor criteria.
CO is
the primary feature of FS and has been described in 84% to 93% of the patients.
It should also be noted that CO isnt a regular finding in the syndrome.5,8 Our case has unilateral complete CO of the right
eye.
Syndactyly is
taken as a chief feature of FS that occurs in almost 77% of the patients. Syndactyly is always cutaneous and, in most cases, involves
fingers and toes.5,8
Genital anomalies in males are:
1.
Micropenis.
2.
Hypospadias.
3.
Cryptorchidism.
4.
Phimosis.
Genital anomalies in females are:
1.
Clitoromegaly.
2.
Bicornuate Uterus.
3.
Uterine Hypoplasia.
4.
Vaginal Agenesis.
5.
Synechiae or
hypoplasia of the labia.5,8
In this case study, cutaneous syndactyly
of the toes is present, but the genitalia are completely normal.
Kinship is reported in 15 24.8% of the cases and an autosomal
recessive pattern of inheritance is evident5,8.
The parents of the patient, on this case study, are not related. There is 25%
recurrence risk of this syndrome, among siblings5. FS
should be suspected in all cases of stillbirths with renal agenesis. 25% of
affected fetuses are stillborn10.
Currently, prenatal diagnosis of FS by an expert is possible with
recognition of some of its characteristics through ultrasonography (USG)
examination of the eyes, digits, kidney, and lungs in utero.7,11
Therefore; USG is recommended in following patients (babies) with higher
chances of Fraser Syndrome:
·
Blood related parents
·
Families with a previously affected child
·
Cases of stillbirths with renal agenesis
Authors Affiliation
Dr. Jawad Bin Yamin
Butt
Layton Benevolent Trust Hospital (LRBT)
436 A/I
Township, Lahore
Dr. Tariq Mehmood Qureshi
Layton Benevolent Trust Hospital (LRBT)
436 A/I
Township, Lahore
Dr. Muhammad Tariq Khan
Layton Benevolent Trust Hospital (LRBT)
436 A/I
Township, Lahore
Dr. Anwar Ul-Haq Ahmad
Layton Benevolent Trust Hospital (LRBT)
436 A/I Township, Lahore
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