Franceschetti syndrome maxillofacial dysostosis. Crouzon syndrome: causes and treatment of congenital anomaly. Features of nutrition of patients with maxillofacial injuries

The most important types of dysostosis: cleidocranial, craniofacial, maxillofacial and maxillocranial.

Clavicular-cranial dysostosis (Scheithauer-Marie-Sainton syndrome) is characterized by hypoplasia of the integumentary bones of the skull in combination with complete or partial underdevelopment of one or both clavicles, that is, a violation of the development of the so-called membranous bones. Dysostosis of this type is characterized by non-fusion or late fusion of cranial sutures and fontanelles, brachycephaly (see full body of knowledge) with a predominant expansion of the cranial vault in the lateral directions, a prominent forehead, hypoplasia of the facial bones, mainly the upper jaw, causing pseudoprogenia (apparent enlargement of the lower jaw) . Impaired jaw development is accompanied by delayed teething. The absence of clavicles or their partial underdevelopment with a defect in the inner, middle or outer parts leads to an increase in the mobility of the shoulder girdle, and with complete absence them - to full contact of the shoulders (Figure 1).

The described changes are often accompanied by deformities of the spine, upper and lower bones. lower limbs, feet, pelvic bones. The anomaly is inherited in a recessive and dominant manner, and can be familial.

With cleidocranial dysostosis, x-rays reveal numerous changes in the skeleton, but the most characteristic are changes in the clavicles and bones of the skull. Clavicle defects are often symmetrical and may be different sizes: from small to complete absence of collarbones. Most often, the acromial end of the clavicle is missing. The free end of the remaining part is rounded, covered with a closing bone plate and connected by a dense fibrous cord to the acromial process of the scapula. Bone inclusions are sometimes found along the fibrous cord.

An X-ray examination of the skull reveals brachycephaly: the skull is enlarged in diameter and reduced in anteroposterior size. The base of the skull is shortened in the transverse direction and somewhat elongated in the longitudinal direction. The bones of the vault, especially the frontal, are thinned and as if swollen, protruding significantly to the sides. The anterior fontanel remains unclosed. In places where the sutures intersect, additional fontanelles or additional bone inclusions in the sutures themselves may be observed. Bones facial skull small, maxillary sinuses underdeveloped. The dimensions of the lower jaw are not changed. Anomalies in the bite, location, shape and timing of teeth eruption are detected.

When examining the skeleton of the torso and limbs, deviations in the development of a number of bones can be detected: reduced size of the shoulder blades, sacrum, pelvic bones with the absence of fusion of the pubic, ischial and ilium bones and underdevelopment of the pubic symphysis; underdevelopment of the proximal thighs with varus deformity; shortening or absence of nail tubercles at the terminal phalanges of the fingers and toes; nonfusion of the vertebral arches.

With multiple skeletal lesions, the presence of characteristic changes in the clavicles makes the x-ray diagnosis reliable.

Craniofacial dysostosis (Crouzon syndrome, hypertelorism) - underdevelopment of the bones of the skull, brain and upper jaw in combination with premature closure of cranial sutures, exophthalmos (see full body of knowledge), strabismus (see full body of knowledge), nystagmus (see full body of knowledge) , visual impairment. The forehead in the area of ​​the bridge of the nose is lumpy, the eyes are widely spaced (Figure 2), the nose is of a peculiar hook-shaped form (“parrot’s beak”), hypoplasia of the upper jaw, pseudoprogenia; in pronounced cases, a decrease in mental development is observed. Inherited in a dominant manner.

X-ray reveals changes in the skull. What comes to the fore is a characteristic deconfiguration of the head and a violation of the normal relationships between the cerebral and facial skulls: the first is reduced in size, has an almost spherical shape, the sutures are closed, and the digital impressions are strengthened. The bones of the cranial vault are thinned, protruding somewhat outward in the area of ​​the anterior fontanel. The base of the skull is shortened and deepened, the area of ​​the sella turcica is narrowed, and the orbits are flattened.

The bones of the facial skull are small: the upper jaw and nasal bones are underdeveloped, the lower jaw protrudes significantly forward, resulting in a sharp deflection of the nose inward.

Maxillofacial dysostosis (Berry-Francheschetti syndrome, Franceschetti-Zwalen syndrome) - hypoplasia mainly of the lower jaw and zygomatic bones, macrostomia (a kind of “fish” or “bird” face), wide, obliquely located palpebral fissures(Figure 3), with everted and slanted eyelids and colobomas in the outer parts, blind fistulas from the corners of the mouth to the ears, lingual hair growth of the cheeks, disturbances in the development of teeth, deformation of the auricles, sometimes the middle and inner ear with the development of deafness, removable by surgery. In contrast to Crouzon and Apert syndromes (see full body of knowledge Apert syndrome), a strong development is determined frontal sinuses. Deformation occurs chest and spine. Inherited in a dominant manner.

Maxillocranial dysostosis (Peters-Hevels syndrome) - hypoplasia of the upper jaw, zygomatic arches, open bite, progeny (protrusion of the lower jaw), shortening of the anterior part of the base of the skull. The anomaly is inherited in a dominant manner.

There are other forms of cranial dysostosis: Gegenhar, Robin, Francois syndromes and others Appearance patients with various forms of Dysostosis is characteristic. Dysostosis persists throughout life, cannot be corrected surgically, and requires almost no differential diagnosis with other diseases. In doubtful cases, an important diagnostic method is x-ray. study.

There are so-called incomplete types listed Dysostosis, when not all symptoms characterizing them occur. Individual symptoms can be combined in various combinations, forming, as it were, intermediate types of Dysostosis

The prognosis for life is favorable.

Are you categorically unhappy with the prospect of disappearing from this world forever? You don't want to finish your life path in the form of a disgusting rotting organic mass devoured by grave worms swarming in it? Do you want to return to your youth and live another life? Start all over again? Correct the mistakes made? Make unfulfilled dreams come true? Follow this link:

Although syndrome was perhaps first described by Thomson (1846-1947), the discovery is usually credited to Berry or especially Treacher Collins (the name is usually erroneously hyphenated), who described the essential components of the syndrome. Franceschelti and Klein published an extensive review of this syndrome and gave it the name maxillary dysostosis. Rogers produced a comprehensive analysis of the cases. In total, more than 250 cases have been published.

Clinical data. Inspection data. The appearance of the face is characteristic. The slanting downward slant of the eyes, sunken cheek bones, deformed auricle, receding chin (retrognathia) and a large, fish-like mouth represent the clinical picture of the disease so well that they make it unforgettable. Another unusual feature is a peculiar tongue-like hair growth extending towards the cheeks (Gorlin et al.).

Although eye shape has an oblique, anti-Mongoloid shape, vision is usually normal. Often (in approximately 75% of patients) there is a coloboma in the outer third of the lower eyelid. Almost 50% of patients have a lack of eyelashes medial to the coloboma.
Nasofrontal angle usually closed and the bridge of the nose raised. Due to insufficient development of the cheek bones, the nose looks large. The nostrils are often narrow, and the nasal cartilage is hypoplastic.

Lower jaw almost always hypoplastic, its angle is more obtuse than normal, and the frame is underdeveloped. Under the surface of the body of the lower jaw there is often a clearly defined depression. More than 40% of patients have a high or cleft palate, as well as insufficient teeth closure.

Hearing organ. The pinna is often deformed, wrinkled at the front, or displaced. The external auditory canal, when present, is narrow and oblique (Harrison). About 85% of patients have a deformed auricle and more than 1/3 of patients have no external auditory canal or a defect in the auditory ossicles with conductive deafness (Stovin et al.). A sensorineural component of deafness has also been noted (Kittel, Fleischer-Peters, Partsch, Hulse).

X-ray research showed the presence of sclerosis of the middle and occasionally inner ear with poorly defined structures. The auditory ossicles, as well as the cochlea and vestibular apparatus, may be absent or grossly deformed (McKenzie, Craig, Pavsek, Herberts).

Surgical study revealed such anomalies as fixation of the malleus, synostosis and malformation of the malleus and incus, absence of the stapes and oval window, absence of the m. stapedius, deformation of the incus and stapes, absence of the incus, ankylosis of the base of the stapes, bony bridge in the facial nerve canal, as well as complete absence of the middle ear and epitympanic space. The middle ear cavity may be filled connective tissue(Altmann, Plester, Holborow, Keerl). Plester, Keerl and Edwards found a monolithic stapes and thinning of the long process of the incus.

Almost 25% of patients pathology of the labyrinth was discovered (Stovin, Herberts). Extra-auricular tubercles or blind fistulas may occur between the tragus and the angle of the mouth.
Vestibular system. The results of studies of the vestibular system have not been published.

Laboratory data. Radiologically, the lower edge of the orbit is defective, and the orbital cavity oval shape with a roof sloping downwards and outwards. The body of the zygomatic bone may be completely absent; more often, however, it is significantly and symmetrically underdeveloped and is not connected to the zygomatic arches (there is no temporal branch and, in fact, there is no maxillary branch). Mastoid airless and... often sclerotic. Paranasal sinuses are very small and may be completely absent.

Tomography temporal bones showed atresia of the external auditory canal, significant reduction in size, frequent insufficiency upper section middle ear, thickening of the ear capsule, location of the floor of the middle fossa below the level of the external semicircular canal and incorrect direction of the facial nerve (Terrahe).

Pathology. Sando et al. a histopathological examination of the temporal bones revealed atresia of the external auditory canal and gross pathology of almost all structures of the middle ear. When examining the inner ear, a branching was found in the ridge of the horizontal canal on both sides auditory nerve. The left horizontal canal was absent, and the left utriculus was expanded and contained the crest of the ampulla of the horizontal canal. Based on hysteropathological data, it can be assumed that the lesion occurred between the 6th and 8th week of intrauterine life.

Heredity. The syndrome is inherited in an autosomal dominant manner with incomplete penetrance and variable expressivity. It seems that the gene has a lethal effect, since miscarriages or early postnatal death of children are often observed in families.

Diagnosis. It is necessary to distinguish the oculo-aurital-vertebral syndrome (oculo-auriculo-vertebral syndrome, Goldenhar syndrome, hemifacial microsomia) from maxillofacial dysostosis. Characteristics of Goldenhar syndrome are facial asymmetry, unilateral hypoplasia of the mandibular frame, and a deformed auricle. Less commonly observed are epibulbar dermoid cyst, upper eyelid coloboma, ear tubercles, macrostomia, unilateral facial palsy, and vertebral anomalies (Gorlin et al.). Inheritance is probably multifactorial.

Treatment. Joint efforts should be aimed at correcting microtia, hypoplasia of the lower jaw, tooth decay, and hypoplasia of the zygomatic bones. Tympanotomy with the introduction of a hearing prosthesis usually leads to improved hearing.
Forecast. Deafness does not progress.

conclusions. Characteristics of this syndrome include: 1) autosomal dominant inheritance with variable expressivity; 2) hypoplasia of the zygomatic bones, resulting in an anti-Mongoloid eye shape; 3) coloboma of the lower eyelid and absence of eyelashes medial to the coloboma; 4) hypoplasia of the lower jaw; 5) deformation of the auricle, external auditory canal and middle ear structures; 6) conductive deafness.

Treacher Collins syndrome, or maxillofacial dysostosis, is a genetic disease that is autosomal dominant in inheritance and is characterized by deformation of the face and skull. This disease was first noticed by ophthalmologist Edward Treacher Collins. This event took place in 1900.

Signs and symptoms of this disease can vary greatly among different people, ranging from barely noticeable signs to severe damage. Most patients with this diagnosis have underdeveloped facial bones, especially cheekbones, and a reduced jaw and chin. Sometimes this syndrome accompanies a condition such as cleft palate. In the most severe cases, underdevelopment of bones can lead to the fact that a person simply cannot breathe normally, which is very dangerous for a person’s life.

What mutations lead to the development of the syndrome?

Most often, with this syndrome, a mutation occurs in the TCOF1, POLR1C and POLR1D genes. Moreover, changes in the TCOF1 gene are detected in 93% of all cases of this diagnosis. Mutations in the POLR1C and POLR1D genes are detected quite rarely. This is what causes the development of Treacher Collins syndrome. If there are no violations in these genes, but the disease is present, then its cause can be considered unknown.

These three genes—TCOF1, POLR1C, and POLR1D—are known to play important role in the formation of bones and other tissues of the facial part of the skull. They are actively involved in the production of molecules called ribosomal RNA, which is the “sister” of DNA.

Changes in the above genes reduce the total number of molecules produced. It is believed that this leads to the self-destruction of some cells that are responsible for the development of tissues of the face and skull. All this, even during the formation of the fetus, leads to the fact that there are some problems in the formation of the face, which can be either barely noticeable or very pronounced.

How is the disease inherited?

This disease has autosomal dominant inheritance. Moreover, it will manifest itself in a child if one of the parents has the mutant gene. Most often, mutations in the TCOF1 or POLR1D genes are inherited this way. However, most often, and this is approximately 60% of all cases, the disease is not hereditary in nature, but manifests itself in the child due to a new mutation of only his genes.

If a mutation occurs in the POLR1C gene, then this indicates autosomal recessive inheritance, that is, the child receives the mutant gene from both parents. However, in the parents themselves, the disease most often does not manifest itself at all, or is only mildly expressed. You can see what children with Treacher Collins syndrome look like in photos on the Internet.

Symptoms

Such an unusual disease has many different manifestations. Moreover, one person with this diagnosis may not have all possible defects. And since this disease is congenital, the first signs of the disease can be observed immediately after the birth of the child.

The main manifestations of the disease are numerous facial deformities. In this case, incorrect formation of the palpebral fissure is most often observed. In this case, the outer corner of the eye is always directed not upward, as is usually the case, but downward. This phenomenon is observed on both sides. The eyelids have the shape of a triangle, which is called coloboma.

The second important diagnostic sign is underdevelopment of the zygomatic bone. The cheek bones are very small, which in turn leads to incorrect facial symmetry. The lower jaw also has some underdevelopment and is usually very small. In this case, a large mouth is observed.

Underdevelopment also affects teeth. In some cases, they may be completely absent throughout life, but most often the teeth are widely spaced from each other, which forms an incorrect bite.

The third important sign is either the complete absence or underdevelopment of the ears and ear canal. Because of this, children cannot have normal hearing.

This disease has several stages in its development. At initial stage changes on the face are practically invisible. At medium degree severity, which is detected most often, the above violations are noted. In severe cases, it is almost impossible to see the child’s facial features.

Treatment

Since this disease is genetic in nature, there is simply no treatment for it. However, in case of severe facial malformations, it is possible to perform an operation that will help eliminate the existing defects.

If necessary, correction of the auricles, cleft palate and plastic surgery of the external auditory canal is performed. Since in this disease the jaws are very small and the tongue is large, it simply cannot fit in the mouth. To overcome this pathology, an operation is performed to remove the epiglottis and install a permanent tracheostomy.

It is simply impossible to cure this serious deficiency in one operation, especially if the disorders are severe. Therefore, several plastic surgery, and the treatment cycle itself can last for several years. However, sometimes it is not possible to remove all defects, and a person has to put up with this all his life.

Treacher Collins syndrome (TCS) is a genetically determined pathology caused by a mutation of the gene of chromosome 5 and manifested by external deformities, including facial disfigurement. Defective formation of the skull bones occurs during fetal development. Underdeveloped jaw, zygomatic, frontal and other bones give sick children a characteristic appearance. Since the disease is congenital, such anomalies are detected immediately after birth. Modern methods diagnostics make it possible to identify the syndrome in utero and prevent the birth of a sick child.

The syndrome got its name in honor of an ophthalmologist from England, who at the beginning of the 20th century first described the clinical signs and etiopathogenetic features of the disease. The pathology occurs in 1 in 50 thousand newborns. Currently, the syndrome has not been fully studied, although there are many people with its various forms living in the world.

boy with Treacher Collins syndrome

The disease usually does not pose a serious threat to the lives of patients and does not affect their mental development. In some cases, severe deformation of the skull prevents the child from breathing and eating independently. By limiting the patient's airway, underdeveloped facial bones become the cause of life-threatening diseases.

TDS has another name - maxillofacial or mandibulofascial dysostosis. If a mother or father in a family suffers from this disease, the children will certainly inherit it, since the syndrome is transmitted according to a dominant principle. Deformations of the face and skull formed on early stages pregnancy, can be caused not only by hereditary factors, but also by spontaneous mutation of genes. Both boys and girls get sick equally often. The syndrome according to ICD-10 has code Q75.4 and the name “Maxillofacial dysostosis”.

Clinical manifestations of the syndrome can differ significantly from person to person and range from almost imperceptible facial defects to severe cranial deformation. Patients are born with strabismus, coloboma of the eyelids, small mouth and chin, and impaired hearing. Some children have a hole in the mouth - the so-called “cleft palate”, drooping outer corners of the eyes, and sparse eyelashes. STK does not interfere with the child’s intellectual development. Patients with external deformities gradually adapt to life conditions and difficulties. Some become depressed, not wanting to accept their “unusual” appearance.

Etiology and pathogenesis

The only etiopathogenetic factor of Treacher Collins syndrome is considered genetic mutation. A congenital abnormality in the structure of the fifth chromosome is the cause of the disease. This is the longest nucleotide structure in the human genome and is responsible for the production of material for the fetal skeleton. In the patient's body, the biogenesis and functions of ribosomal RNA are disrupted, intracellular protein synthesis fails, and the process of division of embryonic neural tube cells slows down. Their self-destruction leads to underdevelopment bone tissue and the formation of a child’s disfigured face at the early stage of embryogenesis. The disease can be diagnosed as early as the second month of pregnancy.

The syndrome in 100% of cases is inherited from a sick mother or father according to a dominant principle. If there is a burdened family history, then sick children will certainly be born in this family with this pathology. The expressivity and penetrance of the gene determine different degrees of severity of the defect, which varies in different patients from moderate to extremely severe.

In some cases, the syndrome is not inherited, but is formed due to a new gene mutation after conception. Children with the syndrome are born from absolutely healthy parents. Mutation can occur under the influence of factors that have a teratogenic effect on the fetus:

• alcohol abuse by a pregnant woman,
• smoking and drug addiction,
• severe stress,
• viral and bacterial infections in women,
• severe concomitant pathological processes,
• the use of certain medications - psychotropic and anticonvulsants,
• radiation exposure.

Symptoms

The syndrome is characterized by polymorphic clinical manifestations. Patients with TCS can be recognized immediately. Such children have a characteristic appearance and often look alike.

Clinical signs of the syndrome:

1. violation normal shape palpebral fissure, wide section of the eyes and drooping of their outer edge, anti-Mongoloid eyes;
2. hypoplasia of the zygomatic bones and superciliary arches;
3. facial asymmetry;
4. disproportionately large nose;
5. face pressed inward;
6. small chin,
7. non-fusion of the hard palate;
8. cleft lip;
9. hair growth on the cheeks;
10. damage to the organ of hearing - underdevelopment of the auditory ossicles, tympanic cavity and auricle; atresia of the auditory canal; hearing loss; pretragal fistulas;
11. damage to the oral cavity - “Gothic” palate; pharyngeal hypoplasia - narrowing of the pharynx and airways; “open”, malocclusion; restriction of the ability to open the mouth of varying severity; lack of teeth; displacement of the tongue backwards with obstruction of the respiratory and digestive tracts; defect of soft tissues of the oral cavity;
12. damage to the organ of vision - coloboma of the lower eyelid, absence of eyelashes; strabismus, decreased visual acuity;
13. deformed thumbs hands

Deformation of the face and skull can be combined with malformations of internal organs: the heart, spine, auditory analyzer, exocrine and internal secretion glands, and respiratory tract. In sick children, adaptation to society is disrupted. They are shy around others and avoid contact with them. This leads to the formation of an inferiority complex and the development of depression. At the same time, intelligence is completely preserved: patients adequately perceive information and develop correctly morally and physically.

Clinical signs of the syndrome have varying degrees of severity: from subtle deformations to severe deformities in which facial features are completely erased. In advanced cases, patients have problems with chewing and swallowing, pronunciation of individual sounds, vision and hearing.

Stages

The stages of the syndrome are determined by the complexity of the mutation process and the intensity of clinical signs:

Severe TCS

• The initial stage is characterized by almost imperceptible changes on the face. Sick children are no different from healthy ones and lead a normal life.
• The middle stage is manifested by all of the above disorders. The abnormal deformation of the facial bones is quite severe. There may be difficulties with breathing, eating, hearing loss, and dental problems.
• The severe stage is the complete absence of the face, the inability to examine its features. Even plastic surgery cannot help patients.

Complications

Severe complications and unpleasant consequences of Treacher Collins syndrome:

1. hearing loss and complete deafness,
2. inability to eat,
3. suffocation,
4. complete absence of teeth,
5. abnormal formation of eyeballs,
6. swallowing disorder
7. abnormal development of teeth, problems with chewing and sound pronunciation,
8. nasal voice,
9. damage to the nervous system and mental disorders due to a feeling of inferiority,
10. congenital defects of the heart and internal organs.

Diagnostics

The diagnosis and treatment of Treacher Collins syndrome is carried out by pediatricians, plastic surgeons, ENT doctors and geneticists. Diagnostic measures are divided into pre- and postnatal.

• Prenatal detection of pathology is carried out during ultrasound examination pregnant woman. Additionally, chorionic biopsy, amniocentesis and amniotic fluid analysis, blood testing from the fetal vessels of the placenta, and fetoscopy are performed.
• Postnatal diagnosis is based on characteristic clinical signs and external data of the patient. If the symptoms of the syndrome are mild, problems arise with making a diagnosis. Specialists should pay attention Special attention on the function of respiration and hemoglobin oxygen saturation, as well as assess the effectiveness of feeding a sick child.

During a molecular genetic study, a defect is found in chromosome 5 and a mutation of the gene responsible for the disease is discovered. Taking into account hereditary predisposition and clinical picture, a diagnosis of pathology is made. Genetic counseling is complicated by variable disease expression.

Additional diagnostic methods:

1. assessment of the child’s hearing - recording of auditory potentials, audiometry, audiological testing, tomography of the temporal bones;
2. respiratory assessment is associated with risk of sleep apnea;
3. fluoroscopic or tomographic examination of the head;
4. pantomography;
5. CT and MRI of the brain.

Therapeutic measures

Treacher Collins syndrome is an incurable disease in which it is impossible to eliminate the root cause of deformities of the skull and face. Patients are shown palliative care, allowing to improve the quality of life of patients. If the syndrome was diagnosed during fetal development, pregnant women are advised to have an abortion. When a sick child is born, he needs qualified complex therapy. Patients undergo surgical and orthodontic treatment, improving appearance and quality of life.

• Surgical intervention is carried out with the aim of correcting external defects for a comfortable stay of patients in society. The surgery also prevents death from mutations that make breathing and swallowing difficult. Surgery should be carried out as early as possible, especially in severe cases where there is narrowing of the airways. Patients undergo tracheostomy and gastrostomy for feeding. Then they move on to surgical correction of the palate, lengthening of the lower jaw, endoscopic polysinsotomy, reconstruction of soft tissues - plastic surgery of the auricles, correction of coloboma, supraglottoplasty. These operations are very labor-intensive and costly. Limited mouth opening is very difficult to correct. An ENT surgery specialist is required to treat pathologies of the middle and outer ear.
• Hearing aids are used to improve hearing. Hearing aids are especially necessary in cases where operations on altered auditory ossicles give poor results. To ensure that a sick child does not lag behind his peers in mental development in the future, a hearing aid should be worn from 3 months to 3 years. Subsequently, a magnetic implant is installed in the area behind the ear.
• Dental procedures are performed by dentists to eliminate malocclusion and dental restoration.
• To improve speech, speech therapy and audiology classes are conducted, and psychotherapy sessions are conducted to adapt to society.
• People who have problems swallowing food or drinks need help from speech pathologists.

Craniofacial defects in Treacher Collins syndrome cannot be completely eliminated. Treatment of the pathology is long-term, especially if there are severe disorders. Patients will require a whole series of plastic surgeries. The entire treatment cycle can take several years. If surgeons fail to eliminate all deformities, patients live with them all their lives.

TCS is a congenital disorder of craniofacial development with characteristic bilateral symmetrical ear-mandibular dysplasia without limb anomalies. This hereditary disease is extremely rare in modern medical practice.

Prevention and prognosis

The prognosis for STS is favorable if it does not pose a threat to the child’s life. Timely correction hearing impairment and surgical correction of external defects make it easy to cope with social adaptation and ensure normal intellectual development of children. They live no different from their peers and create full-fledged families. Some patients require the help of psychologists because they see their ugliness and suffer from it. Those who cannot come to terms with such an illness become depressed and try to avoid all communication with other people.

TTS is a lifelong diagnosis. The disease is quite severe and requires highly qualified care. Since it is caused by a genetic mutation, it is impossible to prevent the development of the syndrome. Medical genetic counseling is required for couples with a negative family history. If this disease has not been documented in close and distant relatives, it is necessary to follow standard recommendations regarding a healthy lifestyle during pregnancy.

Video: about the most famous person with Treacher-Collins syndrome