On the short video software, a little girl with a "strange helmet" attracted the attention of netizens. Compared with the impact of "strange helmet", "special face" and "disappearing fingers" in the video, the "particularly cool", "especially handsome" and various encouraging blessings in the comment area seem to gently wrap the coldness of surgical instruments and gently resolve the misfortune caused by the disease.
This little girl is 8 years old, at the age of love to play on the street, but she has "experienced a lot of battles". Walking down the street normally is her dream, but the reality is an annual operation and Apert syndrome, a rare disease that often accompanies her after birth.
pathogenesis
Apert syndrome (AS), also known as pointed and finger/toe deformity type I, belongs to craniosyzyostic premature closure and abnormal skull ossification disorders, autosomal dominant inheritance, the incidence is about 1/60000~1/50000, mostly sporadic cases. The first case of pointy syndactyly was first reported by Wheaton in 1984, and later 9 cases were reported and named by Apert in 1906.
The gene encoding fibroblast growth factor receptor 2 (FGFR2) is located on chromosome 10, and almost all known cases are caused by mutations in this gene. FGFR consists of 4 tyrosine kinases that bind to FGF and plays an important role in signal transduction. Genetic mutations cause changes in protein structure that promote persistent signal lengthening, leading to premature fusion of the skull, hand, and foot bones.
Clinical manifestations
Apert syndrome manifests clinically with two significant craniofacial defects, bilateral coronary suture closure and maxillary hypoplasia, resulting in a flat forehead and a flat midface. In addition, typical findings include proptosis (exophthalmos), hyperorbital spacing (widening of orbital distance), and outward and downward tilt of the horizontal orbital axis. Low ear positions often have an abnormally small and flat nose and a spherical nose tip. Patients usually have a high arched palate, up to 1/3 with cleft palate. The maxillary arch is often V-shaped. Almost all patients have class III malocclusion (reverse jaw).
Source: UpToDate Clinical Consultant
Syndactyly-toe deformity is a typical feature of Apert syndrome and is a manifestation that distinguishes it from other similar syndromes. Patients with Apert syndrome usually have complex synonyms, called "mitten glove-like deformities" or "glove hands," in which the bones and soft tissues of the 2nd, 3rd, 4th, and 5th fingers fuse and share a nail bed. The thumb is usually in relatively good shape and movable. The feet often have similar synphalangeal deformities.
Source: UpToDate Clinical Consultant
Common manifestations of Apert syndrome also include strabismus and hearing loss due to persistent middle ear effusion. A small, malformed pharynx and an underdeveloped mid-facet may cause airway collapse. 70% of patients with Apert syndrome develop severe acne vulgaris, often affecting the extremities. Most children have mental retardation.
Diagnosis and treatment
Apert syndrome can be diagnosed by typical clinical features, and molecular genetic testing suggests a pathogenic heterozygous variant of the FGFR2 gene combined with the characteristic phenotype of Apert syndrome.
Treatment of Apert syndrome needs to be evaluated by a multidisciplinary team, including plastic surgeons, neurosurgeons, pediatricians, geneticists, dentists, ophthalmologists, ear, nose and throat doctors, phoneticians, and psychologists. At the same time, imaging examinations, head measurements, and facial feature data were collected to assess the condition. When the patient's functional symptoms such as vision are stable, follow-up can be 1 time per year.
From birth to 4 months, newborns undergo interdisciplinary systematic evaluation by experts in multiple disciplines, and evaluate the condition of vital organs throughout the body through comprehensive examinations such as X-rays, CT, MRI, and electrocardiograms. 4-6 months after birth, children with Apert syndrome focus on the development of skull and brain tissue. At this time, the brain tissue develops rapidly, but it is compressed due to the premature closure of the skull suture, showing typical signs of intracranial hypertension such as "acupressure sign", which may affect mental intelligence development if not solved in time.
1. Correction of cranial orbital bone deformity and maxillofacial bone deformity:
It is divided into 3 stages, which are compatible with the growth and development of the child's face and psychosocial development:
Craniosuture release
If intracranial pressure is normal, premature closure of the cranial suture is usually released by frontal orbital predisplacement between 6 and 12 months of age. However, up to 43% of cases may present with increased intracranial pressure, which requires rapid surgical premobility and possibly ventricular-peritoneal shunting.
More and more surgeons are choosing to perform initial surgery within the first year of life to complete the retraction of the back of the skull, which can reduce the presence of tower heads in addition to increasing intracranial volume. In this case, frontal orbital preposition can be performed when the child is older.
Midfacial anterior surgery
Although craniosiolysis is performed early, the child may need to undergo repeat surgery to correct cephalic deformities such as brachycephaly, orbital ectopia, or midfacial hypoplasia before enrollment.
The exact timing of midfacial anterior surgery is controversial. Surgery between the ages of 4 and 8 years allows the child to achieve better appearance during this psychological establishment period, but most patients require further anterior surgery in late adolescence. Another strategy is to perform midfacial anterior surgery between the ages of 9 and 12, when growth and development are almost complete and the recurrence rate is reduced, but these early orthopedic surgeries have little help in the child's mind.
Specifically, there are two surgical options: Le Fort type III osteotomy, or global predisplacement using traction osteogenesis. Without forehead retraction, Le Fort type II surgery is usually used. Traction osteogenesis corrects mid-facial structural deformities with longer-lasting effects and appears to improve outcomes with midfacial advancement compared with conventional techniques.
Correction of widening of the orbital distance
Widening of the orbital distance can be corrected by wedge resection of part of the interorbital bone. After the interorbital bone is removed, the orbit can be gathered inward to improve the appearance. Mandibular surgery with maxillary advancement and orthodontics can be performed after development is complete to further improve long-term cosmetic outcomes.
2. Correction of fingers and toes
In patients with Apert syndrome, syndactyly is often complex syndactyly, and in addition to the connection of skin and soft tissue, there is fusion between phalanges, or neurovascular and muscular tendon connection. The timing of treatment should be based on the comprehensive assessment of the grade of the deformity and the general condition of the child, and generally perform bifurcation to correct the deformity in the early stage before the age of 6 months to 3 years to reduce the secondary deformity after surgery.
Bifurcation to correct and deformity requires separation of the skin between the fingers for Z-shaped tissue flap modification, usually the flap should cover the joint as much as possible, and try to cover the radial side of the finger with the flap to ensure the presence of radial sensation. The wound after finger separation is transplanted with a full thick skin sheet, and angiography can be performed before the treatment of concurrent fingers with vascular nerve variants, and the vascular condition can be fully understood before surgery. When blood flow is poor, staged surgery may be used. When there is only one digital nerve between the two fingers, the digital nerve should be preserved as much as possible on the radial side of the demonstrative, middle, and annular fingers and the ulnar side of the little finger when dividing the fingers, so as to reconstruct the sensation of the finger pinching. When two fingers share a tendon, the tendon can be retained on the main finger, and if necessary, it can be shifted from one finger to the corresponding position on the main finger, and tendon transplantation can be performed later for fingers without tendons. Syndicated toe deformity of the toes has little effect on function and shape and can be left untreated.
How does Apert syndrome achieve eugenics?
Older parental age (36 years for fathers and 33 years for mothers) is a high-risk factor, and its incidence increases with parity, presumably due to mutations in both parents, especially in the father's germ cells.
Early diagnosis and intervention during pregnancy is important. The appearance of a clover-like skull suture closure deformity at 26 weeks' gestation is a distinct feature of Apert syndrome. Two-dimensional ultrasound and fetal magnetic resonance imaging are used, and three-dimensional ultrasound can be used to diagnose abnormalities in the hands, feet, and face if necessary.
In summary, the characteristics of clover-like fetal skull malformations, clinical diagnosis of fetal syndactyly, and prenatal genetic analysis confirm that FGFR2 mutations can diagnose fetal Apert syndrome.
Bibliography:
1. Jin Tianjiao, return. Progress in the treatment of Apert syndrome[J]. Chinese Journal of Aesthetic Medicine, 2012, 21(6):4.
2. Tang Xiaojun, Return, Zhang Zhiyong. Research progress of Apert syndrome[J]. Chinese Journal of Plastic Surgery, 2007, 23(5):4.
3. UpToDate Clinical Consultant: Syndromic craniosytosytic closure.
Source | Mace Medical Lin Lin
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