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Craniofacial deformity syndrome refers to congenital malformations for the skull and face, commonly known as Tryper-Collins syndrome, Crouzon syndrome, Apert syndrome, Robin syndrome, Klippel-Feil syndrome, obstructive sleep apnea syndrome, Down syndrome, the onset of which is often associated with autosomal recessive inheritance, maternal use of a teratogenic substance or viral infection during pregnancy, Or caused by a precocular dysplasia in the fetus at 5 to 7 weeks.
For the sake of identification and comparison, let's introduce its iconic features one by one.
01
Treacher-Collins syndrome
Treacher-Collins syndrome, also known as mandibular dysplasia syndrome (MFD), is an autologously dominant congenital disorder. This genetic defect leads to dysplasia of the first and second parotid arches on both sides, resulting in different degrees of facial and mandibular deformities, and symptoms can range from very mild eyelid drooping to severe complete defects, such as: partial deletion of the lower eyelid; loss of 2/3 of the eyelashes in the lower eyelid; hypoplasia of the cheekbones and mandible; external ear and hearing defects; sideburns hair growing very front.
Figure 1, Source: Literature[1]
The cause of the disease is generally considered to be new mutations or abnormalities caused by external factors, and the father's age may also be one of the factors.
Table 1. Various clinical manifestations of MFD
In addition, it should be noted that unilateral MFD does not exist, and patients present with bilateral pathological signs at the same time.
02
Crouzon syndrome
Crouzon syndrome is characterized by premature cranial suture closure and depressions in the frog's face, protruding eye, and midface. Clinical manifestations are increased intracranial pressure and craniofacial deformities due to premature cranial suture and craniofacial bone dysplasia.
Table 2. Craniofacial deformities caused by increased intracranial pressure after cranial suture premature closure and cranial suture premature closure
Figure 2, anterior oblique head deformity, exophthalmos of the eyeball. Source: Literature[2]
At the same time, the maxilla of Crouzon syndrome is underdeveloped in three directions, that is, the anteroposterior, left and right, and upper and lower are small, so the orbital floor is shallow, the maxillary dental arch is narrow, and the teeth are crowded.
03
Apert syndrome
Apert syndrome, also known as pointed head and finger (toe) syndrome, is characterized by mid-facial hypoplasia and symmetrical hand-foot and finger (toe) syndrome, which is chromosomally dominant inheritance.
Table 3. Characteristic differences between Apert syndrome and Crouzon syndrome
Figure 3, Craniofacial features in children with Apert syndrome. Source: Literature[3]
At the same time, Apert syndrome has shorter upper extremities, common 2, 3, and 4 phalangeal adhesions, only one common nail, and the interphalangeal joints are adhesions, but the metacarpophalangeal joints can still move. There are similar deformities in the toes.
Figure 4: Limb characteristics in children with Apert syndrome. Source: Literature[4]
04
Robin syndrome
Newborns with Robin syndrome have so small that their tongue retracts backwards, causing upper respiratory tract obstruction, often with a cleft palate. The face of a child with a retracted jaw looks like a bird's face, and it is not easy to feed, eat less, lack of nutrition, grow small, easy to leak milk, and cause recurrent respiratory infections due to inhalation into the lungs.
Figure 5, neonatal mandible of Robin syndrome. Source: Literature[5]
Therefore, the key to the treatment of Robin syndrome is to solve the respiratory problems caused by recosusciation of the tongue, and after solving, the weight is gradually increased, the mandible grows, and it gradually approaches ordinary people.
05
Klippel-Feil syndrome
Patients with Klippel-Feil syndrome (KFS) have three typical signs: short neck, low neck and hairline, and adhesions to the cervical spine and inability to move.
Figure 6, Source: Literature[7]
Table 4. Proportion of patients with Klippel-Feil syndrome with various complications
06
Obstructive sleep apnea syndrome
Obstructive sleep apnea syndrome (OSAS) refers to the lack of sleep quality caused by apnea during sleep, increased carbon dioxide in the blood, decreased oxygen, and severe daytime sleepiness, which can be complicated by heart disease and lead to death.
It can be divided into three categories: obstructive sleep apnea, which refers to a continuous and gradual increase in the strength of the diaphragm without nose or mouth ventilation; central sleep apnea, which refers to sleep apnea with reduced respiratory muscle activity; and mixed sleep apnea.
Patients are characterized by: male, obese, drowsiness and snoring. Because of repeated apnea, sleep is often suspended, so daytime drowsiness, patients have memory and judgment loss, easy agitation, morning headache, personality changes, including inappropriate behavior, easy to suspect, impatience and depression. Children often have bedwetting, low weight, difficulty growing up, poor school performance, and frequent nightmares.
The predisposing factors associated with OSAS are: first, obesity; second, ethanol, tranquilizers and sleeping pills; third, abnormal structure of the nose, mouth and throat, such as turbinate hypertrophy, megalolinguitis, tonsil hypertrophy, and soft palate.
Figure 7, Source: Guidelines for the Diagnosis and Treatment of Obstructive Sleep Apnea in Children in China (2020)
07
Down syndrome
Down syndrome, also known as trisomy 21 syndrome, Down syndrome, is used to describe congenital malformations with short stature and low intelligence. This syndrome is due to an abnormal number of chromosomes. In addition to short stature and low intelligence, patients also have low nose, raised outer corner of the eye, broken palm and other characteristics.
Figure 8
Clinically, patients have low immunity, easy to infect, easy to age, flat skull base, short anterior and posterior diameter of the skull, and brain weight is only 76% of ordinary people. Some patients have congenital cardiac dysplasia, hearing loss, eye symptoms, etc. Generalized hypotonia is a feature of developmental delay in infants and young children with Down syndrome.
Children with craniofacial deformities are generally accompanied by developmental defects, which not only bring psychological and physical harm to the children themselves, but also bring great economic burdens to the family and society. To prevent congenital malformations, it is not only necessary to do a good job of pre-pregnancy and prenatal examinations, pregnant women should also pay attention to staying away from harmful substances as much as possible during pregnancy and avoiding exposure to risk factors.
bibliography:
[1] Dixon MJ. Treacher Collins syndrome. J Med Genet. 1995 Oct;32(10):806-8.
[2] Gupta S, Prasad A, Sinha U, Singh R, Gupta G. Crouzon Syndrome in a Ten-week-old Infant: A Case Report. Saudi J Med Med Sci. 2020 May-Aug;8( 2):146-150.
[3] Hohoff Ariane,Joos Ulrich,Meyer Ulrich,Ehmer Ulrike,Stamm Thomas. The spectrum of Apert syndrome: phenotype, particularities in orthodontic treatment, and characteristics of orthognathic surgery[J]. Head & Face Medicine,2007,3(1).
[4] Stauffer A, Farr S. Is the Apert foot an overlooked aspect of this rare genetic disease? Clinical findings and treatment options for foot deformities in Apert syndrome. BMC Musculoskelet Disord. 2020 Nov 28;21(1):788.
[5] Kim JJ, Choi DS, Jang I, Cha BK, Park IW. Pierre Robin sequence with severe scoliosis in an adult: A case report of clinical and radiological features. Imaging Sci Dent. 2019 Dec;49(4):323-329.
Huang Jiarong, Ping Fen, Zhang Fengrui, Tian Yujing, Zhang Ning, Han Shuzhi, Cao Lei. Research progress on gene polymorphisms of obstructive sleep apnea hypopnea syndrome[J].International Respiratory Journal,2021,41(22):1751-1755.
[7] Zhang YK, Geng SM, Liu PN, Lv G. Association of Craniovertebral Junction Anomalies, Klippel-Feil Syndrome, Ruptured Dermoid Cyst and Mirror Movement in One Patient: A Unique Case and Literature Review. Turk Neurosurg. 2016;26(1):153-65.
This article was first published: Pediatrics Channel of the Medical Professions
This article is written by Stey Tsai
Editor-in-Charge: CiCi