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Ординатура / Хирургия / Библиотека им академика М.И. Перельмана / Книга_4533_Библиотеки_им_академика_М_И_Перельмана

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338
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C. Mönningho
a
c d
Fig. 21.11 Hemangioma of the upper right eyelid on
transversal T2w MR images (a) of a 2-year-old girl shows an inhomogeneous hyperintense vascular tumor protrud­ing in the preseptal skin. On axial T1w images with fat suppression the vessel walls of the vascular tumor enhance brightly after administration of Gadolinium (b). A 6-year-
b
old boy with a right buccal hemangioma (c) presents with a focal calcication (white arrow) within the hyperintense vascular tumor in the subcutaneous fat (d) without inltra­tion of the right maxilla and the masseter muscle. Courtesy of Dr. Claudia Moeller-Hartmann, University Hospital Essen, Germany
21 Radiological Investigations ofCraniofacial Malformations
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Infantile and congenital hemangiomas are indis­tinguishable on imaging but have different clini­cal and histological characteristics. Congenital hemangiomas are completely formed lesions at birth without signicant growth, whereas the infantile type is characteristically small or absent at birth. During the rst year of life, they prolifer­ate with progressive growth, followed by a sta­tionary period, and nally, a progressive involution during the early childhood. Up to 50% involute by 5 years. There is a prevalence of 1–2% in neonates, and by 1year of age, there is a prevalence of 12%. Females, Caucasians, and premature neonates are disproportionately affected [121]. Duplex US shows hemangiomas as cutaneous or subcutaneous soft tissue masses with dilated and irregular internal vascularity with simultaneous arterial and venous ow within the masses including high-velocity arterial wave­forms and low-resistance venous waveforms [7,
122]. Most hemangiomas do not require therapy,
but the beta-blocker propranolol is safely used in the management of infantile hemangiomas in dif­ferent locations [123]. Magnetic resonance imag­ing is essential for identication, characterization, and delineation of hemangiomas in retro-orbital, intraosseous, intraparenchymal locations of organs and even in intracranial locations [7, 124–
127]. For intraosseous manifestations, CT imag-
ing can be benecial to evaluate the stability of affected bones, e.g., vertebrae [128–133].
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Maxillofacial Investigation
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inCraniofacially Malformed Patients
RitaDepprich
22
Craniofacial malformations (CM) occur when there is perturbation due to genetic anomalies, environmental inuences, or both [1]. CM com­prise diverse diagnoses, implying a wide range of morbidity and disability; therefore, a thorough clinical investigation is indispensable. The com­plexity of CM requires interdisciplinary collabo­ration between geneticists, pediatricians, neurosurgeons, ENTs, maxillofacial surgeons, ophthalmologists, dentists, speech therapists, psychologists, etc., for diagnosis and therapy.
Oral clefts (OC) of different extents are the most common (Fig.22.1) CM, Asian population shows a higher incidence compared to Caucasian ethnicity, and African ethnicity shows the lowest incidence [2]. OC are known to negatively affect feeding, hearing, and speech. Early symptoms commonly include feeding difculties, nasal regurgitation, malnutrition, and hearing loss, whereas later in life, speech problems and orth­odontic problems often require treatment [2].
Malformations of the human brain (e.g., encephaloceles) are often associated with various facial anomalies. Craniosynostosis (CS) primarily affects the brain and the oculo-orbital region; CS can occur isolated or can be part of multiple con­genital abnormality syndromes (e.g., Apert and Crouzon; Fig.22.2) [3–5]. Mandibulofacial dysos-
R. Depprich (*) MKG Rheintor, Neuss, Nordrhein-Westfalen, Germany
tosis can be isolated or consist of micrognathia with a variety of congenital anomalies (e.g., Treacher Collins syndrome (Fig.22.3), Nager syn- drome, etc.) [6–8]. The Pierre Robin sequence, a combination of micrognathia, glossoptosis, and cleft palate (airway obstruction), is often associ­ated with various syndromes (e.g., Stickler syn­drome, velocardiofacial syndrome, van der Woude syndrome, etc.) (Table22.1) [9, 10].
To diagnose and assess the sometimes com­plex medical problems of CM, it is important to take the patient’s history, carry out physical exam­ination, and request appropriate investigation (e.g., hematological evaluation, abdominal ultra­sound, spine X-ray, cranial CT scan audiogram, etc.). Maxillofacial and craniofacial assessment covers the whole region of the skull (neurocra­nium and viscerocranium) with special respect to the jaws, the oral cavity, and the occlusion.
22.1 Medical History
Details regarding the presenting complaints and medical and family history should be obtained from the patient and/or the parents. If there is suspicion of a congenital CM, taking the family history is particularly important. Parents, grand­parents, siblings, and cousins should be exam­ined, and a human genetic investigation should be carried out if necessary. A complete family tree should be constructed showing all members
© Springer Nature Switzerland AG 2021 U. Meyer (ed.), Fundamentals of Craniofacial Malformations,
https://doi.org/10.1007/978-3-030-46024-2_22
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346
Unilateral incomplete cleft lipUnilateral complete cleft lip and palate
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R. Depprich
Bilateral complete cleft lip and palate
Fig. 22.1 Phenotypes of different clefts
Fig. 22.2 Typical appearance of Crouzon syndrome
22 Maxillofacial Investigation inCraniofacially Malformed Patients
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Fig. 22.3 Clinical picture and CBCT of a Treacher Collins syndrome patient
Table 22.1 Important syndromes with Robin sequence
Syndrome Symptoms Frequency Inheritance/gene 22q11.2 deletion syndrome
(DiGeorge syndrome/ velocardiofacial syndrome) [48] Stickler syndrome [
van der Woude syndrome [50] Treacher Collins syndrome (mandibulofacial dysostosis) [ Nager acrofacial dysostosis
60]
[
49] Cleft palate, micrognathia, midfacial
33]
Cardiac anomaly, polyhydramnios, polydactyly, cleft palate
hypoplasia, hearing loss, vitreoretinal degeneration, joint hypermobility, premature osteoarthritis Cleft lip and/or palate, lip pits 1in 35,000 to
Micrognathia, malar hypoplasia, eye abnormalities, cleft palate, ear deformation, hearing loss Malar hypoplasia, micrognathia, cleft palate, ear deformation, hearing loss, abnormalities of upper extremities, malformed or absent thumbs, clinodactyly, syndactyly
1in 4000 AD, 22q11.2
1in 7500 to 9000
1in 100,000 1in 50,000 AD, TCOF1,
Very rare AD/AR, SF3B4
AD/AR, COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3 AD, IRF6
POLR1D; AR, POLR1C
347
affected. Consanguinity and ethnic background could be crucial and also be reviewed. Furthermore, parents should be asked for details concerning pregnancy, maternal drug history during preg­nancy, delivery, newborn period, and early child­hood. All relevant information is documented in the medical record.
22.2 Clinical Examination
The clinical examination of patients with CM should not be limited to the head and neck but should include a comprehensive and systematic
physical examination since several systems of the body are often affected (Table22.2). It is impor­tant to be aware that not the full house of all clas­sical symptoms of a specic disease is present in every patient. The existence of more than one malformation or a malformation in combination with a minor anomaly may be clues to a specic diagnosis. In some rare cases, manifestations of more than one syndrome are found (overlap syn­drome/associational syndrome) [11], making it difcult to assign the right diagnosis. All ndings (height, body weight, head circumference, etc.) are noted meticulously in the medical record and plotted on adequate growth curves, if appropriate.
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