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There are a wide array of features noted in association
with the syndrome, including genitourinary defects,
mental retardation, midface hypoplasia, auricular
anomalies, hypopigmentation of the skin, an increased
[3]
[4]
number of nevocellular nevi, conductive hearing loss,
[9]
nipple abnormalities, lumbar lordosis, short stature,
glaucoma, and blindness. [10]
The cosmetic aspects of EEC can have a tremendous
impact on quality of life. The facial and limb differences
can be socially isolating and physically challenging for
both children and adults.

There are a few cases of EEC syndrome reported in the
literature, with variable presentation. Here, we offer
an insight into the diagnosis and management of EEC
syndrome through the presentation of a case. Figure 1: Wide left unilateral complete cleft lip and palate

CASE REPORT

A 22‑year‑old man presented to our unit with a chief
complaint of cleft lip and cleft palate. There was no family
history of any such deformity.

On physical examination, the patient had a wide left
unilateral complete cleft lip and palate [Figure 1]. Clinical
features show shortening of the philtral height, shortened
columella, the flattened alar dome on the cleft side and
alar rim distortion, which reduced the apparent height of
the columella.
The examination of the upper extremities was remarkable
for ectrodactyly. The right hand showed clefting between
the second and fourth digits with the absence of the Figure 2: Upper extremities showing ectrodactyly
third digit. The left hand showed clefting in the same
region with a deformity between the second and fourth
digits and absence of the third digit [Figure 2]. The lower
extremities were remarkable for ectrodactyly of the right
foot with clefting present between the great toe and
third digit of the right foot and absence of the second
digit [Figure 3].
The scalp, hair and eyebrows were light, short, thin,
brittle and kinky. There was no dermatitis of the scalp.
The eyebrows were especially sparse in their lateral
halves. The patient’s skin was significantly thickened
and dry, especially on the extremities, with ridged and
brittle toenails. The parents reported that he seldom
sweated. The evaluation of the patient’s psychomotor
development showed moderate retardation. The speech
disorder was attributed to both his anatomical lip and Figure 3: Clefting present in between the great toe and the third digit
palate impairment and psychomotor retardation. The of the right foot
ophthalmological examination revealed no abnormality
and no epiphora. Audiometric analysis showed no hand. The left hand revealed a deformity of the phalanges
conduction blockade. of the second digit, with fusion and deformity of the
third and fourth digits [Figure 4]. The right foot shows
The intraoral examination was notable for a complete cleft
palate. There were multiple carious and missing teeth. An a deformity of the second metatarsal and the absence of
orthopantomograph revealed a wide alveolar cleft in the phalanges of the second digit [Figure 5].
left maxilla in the region of the left incisor and canine. The patient was taken to the operating room for repair
Radiographic examination of the hands revealed a fusion of the cleft lip and palate under general anesthesia. The
of the metacarpals and phalanges of the first and second cleft lip was repaired with use of the Millard incision,
digits and a deformity of the third metacarpal of the right and the palate was repaired using the Bardach two flap

Plast Aesthet Res || Vol 2 || Issue 5 || Sep 15, 2015 291