Craniofacial Anomalies, Part 2 - Plastic Surgery Internal

Associated Anomalies
Although cervical spine anomalies are not usually
mentioned in association with craniosynostosis,
intervertebral fusion has been documented in 71%
of children with Apert syndrome, in 38% of those
with Crouzon disease, and in 30% of those with
Pfeiffer syndrome. 300 Fusions are most often isolated
and involve complex C5-6 lesions in Apert syndrome
and the upper-level cervical vertebrae in Pfeiffer and
Crouzon patients. Affected children may have limited
range of cervical motion, which has implications
for airway management during surgery. 300
III — ATROPHY/HYPOPLASIA
Romberg Disease
(Progressive Hemifacial Atrophy)
Romberg disease was first described by Parry301 in
1825 and later by Romberg302 in 1946. Eulenberg303 coined the term “progressive facial hemiatrophy” in
1871. The disease commences usually in the first or
second decade of life and is more common in girls
than boys by a 1.5:1 ratio. 304 The atrophy is unilateral
in 95% of cases and affects either side of the
face with equal frequency.
The etiology of the disorder is unknown, although
many theories for its pathogenesis have been proposed.
Foremost among these are infection, 305
trigeminal peripheral neuritis, 306 scleroderma, 307 and
cervical sympathetic loss. 308
The condition manifests as progressive hemifacial
atrophy of skin, soft tissue, and bone. Pensler and
colleagues308 evaluated 41 patients and noted that all
atrophic changes began in a localized area and progressed
at a variable rate within the dermatome of
one or more branches of the ipsilateral fifth cranial
nerve. The average age at inception of the disease
was 8.8 years. The main period of progression was
8.9 ± 6 years. In 26 patients with skeletal involvement,
the mean age of onset was 5.4 years vs 15.4
years for 15 patients without skeletal involvement.
No correlation could be established between the
severity of soft-tissue deformity and the age of onset.
Tissue from 6 patients who had ultrastructural
analysis revealed a lymphocytic neurovasculitis with
striking abnormalities of the vascular endothelium
and basement membrane. The alterations of the
vascular basal lamina in lymphocytic neurovasculitis
SRPS Volume 10, Number 17, Part 2
appears to reflect chronic vascular damage with repeat
attempts at endothelial cell regeneration.
Moore and colleagues 309 noted 50% of patients
with Romberg disease had the classic early sign of
coup de sabre, reflecting soft-tissue involvement in
the upper face (frontal and maxillary dermatomes).
In the presence of prolonged active disease, the softtissue
atrophy extended to involve the whole hemiface.
Late-onset disease appears to be characterized by
soft-tissue atrophy in the lower face. Bony hypoplasia
in the mid and lower face was most common.
Involvement of the frontal region was relatively infrequent.
The derangement of the craniofacial skeleton is
unlikely to be solely due to an isolated intrinsic process.
Moore et al 309 surmise that restriction of the
abnormal soft-tissue envelope undoubtedly compounds
any primary skeletal growth disturbance. If
the disease involves bone, it likely exerts its effect on
the craniofacial skeleton only during periods of facial
growth acceleration.
Treatment involves 3D reconstruction of all softtissue
and skeletal disturbances. Surgery is usually
undertaken at least 1 year after photographic records
show no further loss of volume. Greater omentum
free flaps have been described by Jurkiewicz and
Nahai, 310 who note problems with lack of structural
strength and gravitational descent.
Inigo and colleagues 311 review their experience
with dermis-fat free flaps in 35 patients with Romberg
disease. They used the groin free flap in 33
patients and a scapular flap in 3 patients in a twostage
procedure consisting of transfer of the free
flap and defatting and repositioning 6 months later.
Adjuvant procedures included temporal fascial flaps
for the frontal regions and cartilage grafts in the
piriform fossa. The chin was corrected by either
sliding osteotomies for projections of >1cm and
by alloplastic implants for projections of