Made by DATEXIS (Data Science and Text-based Information Systems) at Beuth University of Applied Sciences Berlin
Deep Learning Technology: Sebastian Arnold, Betty van Aken, Paul Grundmann, Felix A. Gers and Alexander Löser. Learning Contextualized Document Representations for Healthcare Answer Retrieval. The Web Conference 2020 (WWW'20)
Funded by The Federal Ministry for Economic Affairs and Energy; Grant: 01MD19013D, Smart-MD Project, Digital Technologies
Depending upon the treatment required, it is sometimes most appropriate to wait until later in life for a surgical remedy – the childhood growth of the face may highlight or increase the symptoms. When surgery is required, particularly when there is a severe disfiguration of the jaw, it is common to use a rib graft to help correct the shape.
According to literature, HFM patients can be treated with various treatment options such functional therapy with an appliance, distraction osteogenesis, or costochondral graft. The treatment is based on the type of severity for these patients. According to Pruzanksky's classification, if the patient has moderate to severe symptoms, then surgery is preferred. If patient has mild symptoms, then a functional appliance is generally used.
Patients can also benefit from a Bone Anchored Hearing Aid (BAHA).
The treatment of individuals with TCS may involve the intervention of professionals from multiple disciplines. The primary concerns are breathing and feeding, as a consequence of the hypoplasia of the mandibula and the obstruction of the hypopharynx by the tongue. Sometimes, they may require a tracheostomy to maintain an adequate airway, and a gastrostomy to assure an adequate caloric intake while protecting the airway. Corrective surgery of the face is performed at defined ages, depending on the developmental state.
An overview of the present guidelines:
- If a cleft palate is present, the repair normally takes place at 9–12 months old. Before surgery, a polysomnography with a palatal plate in place is needed. This may predict the postoperative situation and gives insight on the chance of the presence of sleep apnea (OSAS) after the operation.
- Hearing loss is treated by bone conduction amplification, speech therapy, and educational intervention to avoid language/speech problems. The bone-anchored hearing aid is an alternative for individuals with ear anomalies
- Zygomatic and orbital reconstruction is performed when the cranio-orbitozygomatic bone is completely developed, usually at the age of 5–7 years. In children, an autologous bone graft is mostly used. In combination with this transplantation, lipofilling can be used in the periorbital area to get an optimal result of the reconstruction. Reconstruction of the lower eyelid coloboma includes the use of a myocutaneous flap, which is elevated and in this manner closes the eyelid defect.
- External ear reconstruction is usually done when the individual is at least eight years old. Sometimes, the external auditory canal or middle ear can also be treated.
- The optimal age for the maxillomandibular reconstruction is controversial; as of 2004, this classification has been used:
1. Type I (mild) and Type IIa (moderate) 13–16 years
2. Type IIb (moderate to severe malformation) at skeletal maturity
3. Type III (severe) 6–10 years
- When the teeth are cutting, the teeth should be under supervision of an orthodontist to make sure no abnormalities occur. If abnormalities like dislocation or an overgrowth of teeth are seen, appropriate action can be undertaken as soon as possible.
- Orthognatic treatments usually take place after the age of 16 years; at this point, all teeth are in place and the jaw and dentures are mature. Whenever OSAS is detected, the level of obstruction is determined through endoscopy of the upper airways. Mandibular advancement can be an effective way to improve both breathing and æsthetics, while a chinplasty only restores the profile.
- If a nose reconstruction is necessary, it is usually performed after the orthognatic surgery and after the age of 18 years.
- The contour of the facial soft tissues generally requires correction at a later age, because of the facial skeletal maturity. The use of microsurgical methods, like the free flap transfer, has improved the correction of facial soft tissue contours. Another technique to improve the facial soft tissue contours is lipofilling. For instance, lipofilling is used to reconstruct the eyelids.
There is no ‘standard treatment’ for people with CFND due to the large variations in phenotypic expression. Each patient needs to be assessed and treated based on their specific presentation in order to restore the aesthetic and functional balance.
Surgical corrections for the main symptoms;
- Craniosynostosis correction: The preferred age for this procedure is between 6–9 months of age. Performing this surgery at such an early age can limit the further development of facial asymmetry, if the asymmetry is caused by the craniosynostosis, and prevents prolonged elevated intracranial pressure (ICP). However, the data for the exact risk of an elevated intracranial pressure for patients with CFND is lacking in the published literature. The surgery involves a frontal bone advancement in combination with remodellation of the supraorbital rim.
- Orbital hypertelorism: It is preferred to wait with this treatment until the age of 5–8 years old, after permanent dentition. The procedures that can be performed are the facial bipartition and the box osteotomy. Facial bipartition is the more preferable choice as there are less additional corrections needed, as well as providing a more stable long-term result after treatment. After the correction of the orbitas, the medial corners of the eyes are put more into a horizontal line.
- Nasal deformity correction: The correction of the broad nasal base is simultaneously done with the orbital hypertelorism repair. This is for good alignment of the eyes with the nose for the best aesthetic result. A bifid nose tip will only be treated at the age of 18, when the patient's skeleton has fully matured.
The disorder can be associated with a number of psychological symptoms, anxiety, depression, social phobia, body image disorders, and patients may be subjected to discrimination, bullying and name calling especially when young. A multi-disciplinary team and parental support should include these issues.
There is no standard course of treatment for cerebellar hypoplasia. Treatment depends upon the underlying disorder and the severity of symptoms. Generally, treatment is symptomatic and supportive. Balance rehabilitation techniques may benefit those experiencing difficulty with balance. Treatment is based on the underlying disorder and the symptom severity. Therapies include physical, occuptational, speech/language, visual, psych/ behavioral meds, special education.
The procedure to remedy micromastia is breast enlargement, most commonly augmentation mammoplasty using breast implants. Other techniques available involve using muscle flap-based reconstructive surgery techniques (latissimus dorsi and rectus abdominus muscles), microsurgical reconstruction, or fat grafting.
Another potential treatment is hormonal breast enhancement, such as with estrogens.
There are several options for treatment of mouth anomalies like Tessier cleft number 2-3-7 . These clefts are also seen in various syndromes like Treacher Collins syndrome and hemifacial microsomia, which makes the treatment much more complicated. In this case, treatment of mouth anomalies is a part of the treatment of the syndrome.
Patients with Leydig cell hypoplasia may be treated with hormone replacement therapy (i.e., with androgens), which will result in normal sexual development and the resolution of most symptoms. In the case of 46,XY (genetically "male") individuals who are phenotypically female and/or identify as the female gender, estrogens should be given instead. Surgical correction of the genitals in 46,XY males may be required, and, if necessary, an orchidopexy (relocation of the undescended testes to the scrotum) may be performed as well.
When it comes to treatment it is important to differentiate a thumb that needs stability, more web width and function, or a thumb that needs to be replaced by the index finger. Severe thumb hypoplasia is best treated by pollicization of the index finger. Less severe thumb hypoplasia can be reconstructed by first web space release, ligament reconstruction and muscle or tendon transfer.
It has been recommended that pollicization is performed before 12 months, but a long-term study of pollicizations performed between the age of 9 months and 16 years showed no differences in function related to age at operation.
It is important to know that every reconstruction of the thumb never gives a normal thumb, because there is always a decline of function. When a child has a good index finger, wrist and fore-arm the maximum strength of the thumb will be 50% after surgery in comparison with a normal thumb. The less developed the index finger, wrist and fore-arm is, the less strength the reconstructed thumb will have after surgery.
There is no single strategy for treatment of facial clefts, because of the large amount of variation in these clefts. Which kind of surgery is used depends on the type of clefting and which structures are involved. There is much discussion about the timing of reconstruction of bone and soft tissue. The problem with early reconstruction is the recurrence of the deformity due to the intrinsic restricted growth. This requires additional operations at a later age to make sure all parts of the face are in proportion. A disadvantage of early bone reconstruction is the chance to damage the tooth germs, which are located in the maxilla, just under the orbit. The soft tissue reconstruction can be done at an early age, but only if the used skin flap can be used again during a second operation. The timing of the operation depends on the urgency of the underlying condition. If the operation is necessary to function properly, it should be done at early age. The best aesthetic result is achieved when the incisions are positioned in areas which attract the least attention (they cover up the scars). If, however, the function of a part of the face isn’t damaged, the operation depends on psychological factors and the facial area of reconstruction.
The treatment plan of a facial cleft is planned right after diagnosis. This plan includes every operation needed in the first 18 years of the patients life to reconstruct the face fully.
In this plan, a difference is made between problems that need to be solved to improve the health of the patient (coloboma) and problems that need to be solved for a better cosmetic result (hypertelorism).
The treatment of the facial clefts can be divided in different areas of the face: the cranial anomalies, the orbital and eye anomalies, the nose anomalies, the midface anomalies and the mouth anomalies.
The surgery to correct hypertelorism is usually done between 5 and 8 years of age. This addresses the psychosocial aspects in the child's early school years. Another reason for correction age 5 or older is that the surgery should be delayed until the tooth buds have grown out low enough into the maxilla, thus preventing damage to them. Also, before age 5 the craniofacial bones are thin and fragile, which can make surgical correction difficult. In addition, it is possible that orbital surgery during infancy may inhibit midface growth.
For the treatment of hypertelorism there are 2 main operative options: The box osteotomy and the facial bipartition (also referred to as median fasciotomy).
Oculocerebrocutaneous syndrome (also known as Delleman–Oorthuys syndrome) is a condition characterized by orbital cysts, microphthalmia, porencephaly, agenesis of the corpus callosum, and facial skin tags.
Management has three components: interventions before delivery, timing and place of delivery, and therapy after delivery.
In some cases, fetal therapy is available for the underlying condition; this may help to limit the severity of pulmonary hypoplasia. In exceptional cases, fetal therapy may include fetal surgery.
A 1992 case report of a baby with a sacrococcygeal teratoma (SCT) reported that the SCT had obstructed the outlet of the urinary bladder causing the bladder to rupture in utero and fill the baby's abdomen with urine (a form of ascites). The outcome was good. The baby had normal kidneys and lungs, leading the authors to conclude that obstruction occurred late in the pregnancy and to suggest that the rupture may have protected the baby from the usual complications of such an obstruction. Subsequent to this report, use of a vesicoamniotic shunting procedure (VASP) has been attempted, with limited success.
Often, a baby with a high risk of pulmonary hypoplasia will have a planned delivery in a specialty hospital such as (in the United States) a tertiary referral hospital with a level 3 neonatal intensive-care unit. The baby may require immediate advanced resuscitation and therapy.
Early delivery may be required in order to rescue the fetus from an underlying condition that is causing pulmonary hypoplasia. However, pulmonary hypoplasia increases the risks associated with preterm birth, because once delivered the baby requires adequate lung capacity to sustain life. The decision whether to deliver early includes a careful assessment of the extent to which delaying delivery may increase or decrease the pulmonary hypoplasia. It is a choice between expectant management and active management. An example is congenital cystic adenomatoid malformation with hydrops; impending heart failure may require a preterm delivery. Severe oligohydramnios of early onset and long duration, as can occur with early preterm rupture of membranes, can cause increasingly severe PH; if delivery is postponed by many weeks, PH can become so severe that it results in neonatal death.
After delivery, most affected babies will require supplemental oxygen. Some severely affected babies may be saved with extracorporeal membrane oxygenation (ECMO). Not all specialty hospitals have ECMO, and ECMO is considered the therapy of last resort for pulmonary insufficiency. An alternative to ECMO is high-frequency oscillatory ventilation.
This treatment of orbital hypertelorism was first performed by Paul Tessier. The surgery starts off by various osteotomies that separate the entire bony part of the orbit from the skull and surrounding facial bones. One of the osteotomies consists of removing the bone between the orbits. The orbits are then mobilized and brought towards each other. Because this often creates excessive skin between the orbits a midline excision of skin is frequently necessary. This approximates the eyebrows and eye corners and provides a more pleasing look.
Thymic hypoplasia is a condition where the thymus is underdeveloped or involuted.
Calcium levels can be used to distinguish between the following two conditions associated with thymic hypoplasia:
- 22q11.2 deletion syndrome: hypocalcemia
- Ataxia telangiectasia: normal levels of calcium
Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in the neonatal period. Fryns (1987) reviewed the syndrome.
The majority of patients remain symptom free and able to maintain binocularity with only a slight face turn. Amblyopia is uncommon and, where present, rarely dense. This can be treated with occlusion, and any refractive error can also be corrected.
Duane syndrome cannot be cured, as the "missing" cranial nerve cannot be replaced, and traditionally there has been no expectation that surgery will result in any increase in the range of eye movement. Surgical intervention, therefore, has only been recommended where the patient is unable to maintain binocularity, where they are experiencing symptoms, or where they are forced to adopt a cosmetically unsightly or uncomfortable head posture in order to maintain binocularity. The aims of surgery are to place the eye in a more central position and, thus, place the field of binocularity more centrally also, and to overcome or reduce the need for the adoption of an abnormal head posture. Occasionally, surgery is not needed during childhood, but becomes appropriate later in life, as head position changes (presumably due to progressive muscle contracture).
Surgical approaches include:
- Medial rectus recession in the involved eye or both eyes. By weakening the medial rectus muscles this procedure improves the crossed-eye appearance but does not improve outward eye movements (abductions).
- Morad et al. showed improved abduction after modest unilateral medial rectus recession and lateral rectus resection in a subgroup of patients with mild eye retraction and good adduction before surgery.
- Lateral transposition of the vertical muscles described by Rosenbaum has been shown to improve range of movement of the eye. The surgical procedure produces 40-65 degrees of binocular field. Orbital wall fixation of the lateral rectus muscle (muscle is disinserted and reattached to lateral orbital wall) is recommended an effective method to inactivate a lateral rectus muscle in cases of marked anomalous innervation and severe cocontraction.
Craniofrontonasal dysplasia (craniofrontonasal syndrome, craniofrontonasal dysostosis, CFND) is a very rare X-linked malformation syndrome caused by mutations in the ephrin-B1 gene (EFNB1). Phenotypic expression varies greatly amongst affected individuals, where females are more commonly and generally more severely affected than males.
Common physical malformations are: craniosynostosis of the coronal suture(s), orbital hypertelorism, nasal tip, dry frizzy curled hair, longitudinal ridging and/or splitting of the nails, and facial asymmetry.
The diagnosis CFND is determined by the presence of a mutation in the EFNB1 gene. Physical characteristics may play a supportive role in establishing the diagnosis.
The treatment is always surgical and is based on each patients specific phenotypic presentation.
Miller syndrome is a genetic condition also known as the Genee–Wiedemann syndrome, Wildervanck–Smith syndrome, or postaxial acrofacial dystosis. The incidence of this condition is not known, but it is considered extremely rare. It is due to a mutation in the DHODH gene. Nothing is known of its pathogenesis.
It is often a result of fetal alcohol syndrome (FAS) caused by large alcohol intake in the first month of pregnancy.
It can be associated with trisomy 13 which is also known as Patau syndrome, as well as hereditary neuralgic amyotrophy.
It can also be associated with fragile X syndrome and Prader-Willi syndrome.
Metopic synostosis, the early closure of metopic suture during skull development in children, can also cause hypotelorism.
Hemifacial microsomia (HFM) is a congenital disorder that affects the development of the lower half of the face, most commonly the ears, the mouth and the mandible. It usually occurs on one side of the face, but both sides are sometimes affected. If severe, it may result in difficulties in breathing due to obstruction of the trachea—sometimes even requiring a tracheotomy. With an incidence in the range of 1:3500 to 1:4500, it is the second most common birth defect of the face, after cleft lip and cleft palate. HFM shares many similarities with Treacher Collins syndrome.
Hypotelorism is a medical condition in which there is an abnormally decreased distance between two organs or bodily parts, usually pertaining to eyes (orbits), also known as orbital hypotelorism.
Asymmetric crying facies (ACF), also called Cayler cardiofacial syndrome, partial unilateral facial paresis and hypoplasia of depressor angula oris muscle, is a minor congenital anomaly caused by agenesis or hypoplasia of the depressor anguli oris muscle, one of the muscles that control the movements of the lower lip. This unilateral facial weakness is first noticed when the infant cries or smiles, affecting only one corner of the mouth and occurs on the left side in nearly 80% of cases. It is associated with other birth defects in more than 50% of cases.
When the hypoplasia of the depressor anguli oris muscle is associated with congenital cardiac defects, the term 'Cayler cardiofacial syndrome' is used.
Cayler syndrome is part of 22q11.2 deletion syndrome.
It was characterized by Cayler in 1969.
If dermatochalasis is severe enough to obstruct the peripheral or superior visual fields, then it may be treated with a surgical procedure called blepharoplasty. In blepharoplasty surgery, excess skin, muscle and fat are removed. While the improvement of vision is an indication for blepharoplasty on the superior eyelid, if the visual fields are not obstructed, it may be performed for cosmetic reasons. In general, blepharoplasty of the inferior eyelid is considered cosmetic, as dermatochalasis in the lower eyelid does not interfere with vision.
Treatment of THS includes immunosuppressives such as corticosteroids (often prednisolone) or steroid-sparing agents (such as methotrexate or azathioprine).
Radiotherapy has also been proposed.