Aberrant growth of the anterior cranial base relevant to severe midface hypoplasia of Apert syndrome / 대한악안면성형재건외과학회지

BACKGROUND: A 9-year-old male showed severe defects in midface structures, which resulted in maxillary hypoplasia, ocular hypertelorism, relative mandibular prognathism, and syndactyly. He had been diagnosed as having Apert syndrome and received a surgery of frontal calvaria distraction osteotomy to treat the steep forehead at 6 months old, and a surgery of digital separation to treat severe syndactyly of both hands at 6 years old. Nevertheless, he still showed a turribrachycephalic cranial profile with proptosis, a horizontal groove above supraorbital ridge, and a short nose with bulbous tip. METHODS: Fundamental aberrant growth may be associated with the cranial base structure in radiological observation. RESULTS: The Apert syndrome patient had a shorter and thinner nasal septum in panthomogram, PA view, and Waters’ view; shorter zygomatico-maxillary width (83.5 mm) in Waters’ view; shorter length between the sella and nasion (63.7 mm) on cephalogram; and bigger zygomatic axis angle of the cranial base (118.2°) in basal cranial view than a normal 9-year-old male (94.8 mm, 72.5 mm, 98.1°, respectively). On the other hand, the Apert syndrome patient showed interdigitating calcification of coronal suture similar to that of a normal 30-year-old male in a skull PA view. CONCLUSION: Taken together, the Apert syndrome patient, 9 years old, showed retarded growth of the anterior cranial base affecting severe midface hypoplasia, which resulted in a hypoplastic nasal septum axis, retruded zygomatic axes, and retarded growth of the maxilla and palate even after frontal calvaria distraction osteotomy 8 years ago. Therefore, it was suggested that the severe midface hypoplasia and dysostotic facial profile of the present Apert syndrome case are closely relevant to the aberrant growth of the anterior cranial base supporting the whole oro-facial and forebrain development.

Apert syndrome (Acrocephalosyndactyly): a case report.

Apert syndrome is named for the French physician. Eugene Apert in 1906 described the syndrome acrocephalosyndactylia. It is a rare autosomal dominant disorder characterized by craniosynostosis, craniofacial anomalies, and severe symmetrical syndactyly of the hands and feet (i.e. cutaneous and bony fusion refers to webbing of fingers and toes). Apert syndrome is characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. In addition, a varied number of fingers and toes are fused together (syndactyly). Most cases of Apert syndrome are sporadic, may result from new mutations in the gene. The purpose of this paper is to report a case of Apert syndrome in a female fetus of 30 weeks with asymmetrical skull confirmed by prenatal ultrasonography. Pregnancy was terminated and fetus was submitted for detailed autopsy in anatomy dissection hall. The findings and review of literature were presented in this article.

A Case of Pfeiffer Syndrome with Hydrocephalus and Multiple Congenital Anomalies

Pfeiffer syndrome is one of a rare form of craniosynostosis syndrome, showing variable degree of craniosynostosis, midface hypoplasia, broad thumbs and toes and syndactyly. This is transmitted in autosomal dominant pattern and known to be related to mutations in FGFR (Fibroblast Growth Factor Receptor) 1 or FGFR 2. We experience a case of newborn Pfeiffer syndrome type 3 who had multiple facial anomalies, thumbs and great toes anomalies, ankylosis of radius and ulnar and hydrocephalus.

Treatment of Midface Hypoplasia using Distraction Device in Apert's Syndrome

The current surgical treatment of midface hypoplasia, often associated with exorbitism and malocclusion, is to perform multiple osteotomies, fill the defects with autogenous bone grafts and apply rigid fixation with miniplates and screws. The complications of such procedures are considerable and include donor site morbidity, bone graft infection, resorption of the bone graft, and a skeletal relapse with the development of a malocclusion. Distraction osteogenesis, a technique initially used and described in the correction of lower limb deficiencies and discrepancies, has been recently adapted, at first in animal models and later in the human, to the craniofacial skeleton and has gained popularity as the devices became more sophisticated and the techniques more refined. We experienced a 12-month-old child with Apert's syndrome who had bilateral coronal suture synostosis, severe midface hypoplasia involving the orbits, zygoma, maxilla and associated syndactyly. He underwent a fronto-orbital surgical advancement combined with midface distraction procedure. Bilateral frontal bone flap and supraorbital bar was made and fixed in advanced position. After that, bone lengthening device was applied bilaterally. The anterior segment is attached to the posterior surface of the zygomatic body, and the posterior segment connected to the temporal bone. Distraction began on the 10th day after operation at the rate of 0.5 mm per day and continued for 21 days and then 1.0 mm/day for 8 days. After 13 months of follow-up period, we could find the protruded midface and loss of exorbitism. The lateral cephalogram shows that SNA angle improved from 69 to 80.9 after the operation. The postoperative X-ray and three dimensional CT demonstrate the improved relationship between the midface, mandible, and cranium. Based on our clinical findings, we believe that midface advancement without osteotomies can be achieved in infant patients with syndromic craniosynostosis and midface hypoplasia.

Treatment of Midface Hypoplasia using Distraction Device in Apert's Syndrome

The current surgical treatment of midface hypoplasia, often associated with exorbitism and malocclusion, is to perform multiple osteotomies, fill the defects with autogenous bone grafts and apply rigid fixation with miniplates and screws. The complications of such procedures are considerable and include donor site morbidity, bone graft infection, resorption of the bone graft, and a skeletal relapse with the development of a malocclusion. Distraction osteogenesis, a technique initially used and described in the correction of lower limb deficiencies and discrepancies, has been recently adapted, at first in animal models and later in the human, to the craniofacial skeleton and has gained popularity as the devices became more sophisticated and the techniques more refined. We experienced a 12-month-old child with Apert's syndrome who had bilateral coronal suture synostosis, severe midface hypoplasia involving the orbits, zygoma, maxilla and associated syndactyly. He underwent a fronto-orbital surgical advancement combined with midface distraction procedure. Bilateral frontal bone flap and supraorbital bar was made and fixed in advanced position. After that, bone lengthening device was applied bilaterally. The anterior segment is attached to the posterior surface of the zygomatic body, and the posterior segment connected to the temporal bone. Distraction began on the 10th day after operation at the rate of 0.5 mm per day and continued for 21 days and then 1.0 mm/day for 8 days. After 13 months of follow-up period, we could find the protruded midface and loss of exorbitism. The lateral cephalogram shows that SNA angle improved from 69 to 80.9 after the operation. The postoperative X-ray and three dimensional CT demonstrate the improved relationship between the midface, mandible, and cranium. Based on our clinical findings, we believe that midface advancement without osteotomies can be achieved in infant patients with syndromic craniosynostosis and midface hypoplasia.