A
child of 5 years reported with complaints of inability to close both
eyelids due to swelling on bulbar conjunctiva. On examination both eyes
upper lid showed coloboma with old scars of surgery. Right eye bulbar
conjunctiva showed a lipodermoid on temporal side while left eye showed
limbal dermoid inferiorily at 6o clock. Fundoscopic examination was
normal. Preauricular showed multiple skin tags. Both sides zygomatic
bone showed hypoplasia. X-ray skull, X-ray spine, X-ray lung, CT Brain
and clinical evaluation confirmed our diagnosis. The indifferent presentation
without vertebral, auricular and systemic features made this case to
be reported. |
Goldenhar syndrome,
a term that is often used synonymously with “Oculo-Auriculo-Vertebral
(OAV) spectrum,” is a rare disorder that is apparent at birth
(congenital). The disorder is characterized by a wide spectrum of symptoms
and physical features that may vary greatly in range and severity from
case to case. However, such abnormalities tend to involve the cheekbones,
jaws, mouth, ears, eyes and/or bones of the spinal column (vertebrae).
Although, in most cases, such malformations affect one side of the body
(unilateral), approximately 10 to 33 per cent of affected individuals
have such malformations on both sides of the body (bilateral), with
one side typically more affected than the other (asymmetry). In the
majority of such cases, the right side is more severely affected than
the left. Again, although Goldenhar syndrome (OAV spectrum) is an extremely
variable disorder, abnormalities typically affect certain portions of
the head and facial (craniofacial) area and/or bones of the spinal column
(vertebrae). Due to craniofacial malformations, an affected individual’s
face may appear smaller on one side than the other (hemifacial microsomia);
in addition, if both sides are affected (bilateral), the face may appear
dissimilar from one side to the other (facial asymmetry). Craniofacial
abnormalities may include underdevelopment of the cheekbones (malar
hypoplasia), bones of the upper and lower jaws (maxillary and mandibular
hypoplasia), and the bones forming a portion of the lower skull (temporal
hypoplasia); incomplete development of certain muscles of the face;
an abnormally wide mouth (macrostomia); incomplete closure of the roof
of the mouth (cleft palate); an abnormal groove in the upper lip (cleft
lip); and/or abnormalities of the teeth. Affected individuals may also
exhibit absence (anotia) and/or malformation (microtia) of the outer
ears (auricles or pinnae); narrow, blind ending, or absent external
ear canals (atresia); abnormal outgrowths of skin and cartilage on or
in front of the ears (preauricular tags); and/or abnormalities affecting
the middle and/or inner ears, contributing to or resulting in hearing
impairment (i.e., conductive and/or sensorineural hearing loss). Eye
abnormalities may also be present including the formation of cysts on
the eyeballs (epibulbar dermoids and lipodermoids), partial absence
of tissue (coloboma) from the upper eyelids, abnormal smallness of the
eye (microphthalmia), narrowing of the eyelid folds (palpebral fissures)
between the upper and lower eyelids (blepharophimosis), crossing of
the eyes (strabismus), and/or other eye abnormalities. Vertebral malformations
associated with Goldenhar syndrome (OAV spectrum) may include incomplete
development (hypoplasia), fusion, and/or absence of certain vertebrae.
In addition, many affected individuals may have additional skeletal,
neurological, heart (cardiac), lung (pulmonary), kidney (renal), and/or
gastrointestinal abnormalities. In approximately five to 15 per cent
of affected individuals, mild mental retardation may also be present.
A variety of terms has been used to describe this extremely variable
disorder. According to the medical literature, when malformations primarily
involve the jaw, mouth, and ears and in most cases, affect one side
of the body (unilateral), the disorder is often referred to as “Hemifacial
Microsomia”. If abnormalities of the vertebrae and the eyes are
also present, the disorder is often called “Goldenhar syndrome”.
Within the medical literature, the term “Oculo-Auriculo-Vertebral
(OAV) spectrum” is often used synonymously with Goldenhar syndrome
and Hemifacial Microsomia. However, due to the complexity and varying
severity and expression of the OAV spectrum, some researchers suggest
that Hemifacial Microsomia and Goldenhar syndrome actually represent
different aspects or levels of severity of OAV spectrum. In most cases,
Goldenhar syndrome (OAV spectrum) appears to occur randomly, with no
apparent cause (sporadic). However, in some cases, positive family histories
have been present that have suggested autosomal dominant or recessive
inheritance. In addition, some researchers suggest that the disorder
may be caused by the interaction of many genes, possibly in combination
with environmental factors (multifactorial inheritance). |
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