Head and Neck
Rui Diogo, Drew M. Noden, Christopher M. Smith, Julia Molnar, Julia C. Boughner, Claudia Barrocas, Joana Bruno in Understanding Human Anatomy and Pathology, 2018
The muscles of facial expression are shown in Plates 3.27 and 3.16. The platysma muscle runs from the upper pectoral region to the inferior border of the mandible, skin of the cheek, and angle of the mouth. The orbicularis oculi encircles the palpebral fissure (opening of the eyelid) and has three parts: The orbital part surrounds the orbital margin and is involved in tight closure of the eyelid; the palpebral part is contained in the eyelids and is involved in the blinking of the eyelid; and the lacrimal part that lies deep to the palpebral part, pressing on the lacrimal sac. The levator labii superioris runs from the maxilla to the upper lip and elevates the upper lip. This lip muscle is just lateral to the levator labii superioris alaeque nasi that runs from the upper lip to the superior region of the nose (just lateral to the inferior portion of the procerus). The zygomaticus major runs from the zygomatic bone to the angle of the mouth and, together with the zygomaticus minor, draws the angle of the mouth superiorly and posteriorly (i.e., in a smile). The orbicularis oris is attached to the maxilla, mandible, skin of the mouth, and angle of the mouth, and functions as the sphincter of the mouth. The depressor anguli oris lies superficial to the depressor labii inferioris (which in turn lies mainly superficial to the mentalis) and runs from the mandible to the angle of the mouth to depress the corner of the mouth (i.e., in a frown).
Smith-Magenis Syndrome—A Developmental Disorder with Circadian Dysfunction
Merlin G. Butler, F. John Meaney in Genetics of Developmental Disabilities, 2019
Craniofacial features in SMS are distinct across all ages (Fig. 2), but often subtle during infancy. The head is brachycephalic with a square-shaped face and prominent forehead. The eyes are close and deep set with upslanting palpebral fissures. Although the marked midface hypoplasia persists across all ages, it may not be fully appreciated in early infancy. In the infant/toddler stage, children with SMS have a smiling, almost angelic (cherubic) appearance, due to their rosy and pudgy cheeks, marked midface hypoplasia, and upslanting palpebral fissures. Their facial features have been described as reminiscent of the Hummel porcelain angel figurines. Eyebrows are usually heavy and dark with mild to complete synophrys that becomes more apparent with age. The nose is short (reduced nasal height) and broad with anteverted nares. The face may appear expressionless with an open mouth posture. The mouth is very distinct and characteristic of the syndrome, especially at younger ages. The upper lip is down-turned with a cupid’s bow or “tented” appearance. Micrognathia changing to relative prognathism occurs with age. In a few instances, the micrognathia may lead to a clinical diagnosis of Pierre Robin sequence with/ without associated cleft palate (2,26). The facial appearance is most distinctive by mid-childhood (school age) and appears to coarsen with age (Fig. 2). The midface hypoplasia persists into adulthood, and the lower jaw grows, becomes more angulated and exhibits relative prognathia (56).
Craniofacial Surgery
John C Watkinson, Raymond W Clarke, Christopher P Aldren, Doris-Eva Bamiou, Raymond W Clarke, Richard M Irving, Haytham Kubba, Shakeel R Saeed in Paediatrics, The Ear, Skull Base, 2018
The palpebral fissures may be down-slanting, with colobomas of the lower eyelid and eyelash/follicle malformations being common. A hypoplastic midface with poorly developed or absent zygomas, associated with mandibular hypoplasia, results in a very characteristic facial appearance (Figure 19.13). The mandibular hypoplasia might be severe enough to cause significant upper airway obstruction. Features are bilateral and often symmetrical. The difficulties in both intubation and treatment that arise are due to a steep occlusal plane angle (of both the maxilla and the mandible), often dental crowding, and significant retrognthaia of the mandible. Therefore the chin point is rotated in a clockwise direction towards the larynx/trachea (Figure 19.14).
Case Report: Anti-myelin Oligodendrocyte Glycoprotein (MOG) Positive in a Patient Presented with Orbital Apex Syndrome
Published in Neuro-Ophthalmology, 2020
Sireedhorn Kurathong, Anoma Sanpatchayapong, Metha Apiwattanakul
Clinical examination revealed right eye ptosis. The palpebral fissures were 6 and 9 mm right eye and left eye, respectively. The margin-reflex distance test 1 (MRD1) was 1 mm in the right eye and 4 mm in the left eye. He had no light perception in the right eye and was 20/25 in the left eye. His Ishihara colour vision in the left eye was normal. Both conjunctivae and corneas were normal. The intraocular pressures in each eye were not raised. Both pupils were 3 mm in diameter and round with an absolute afferent pupillary defect in the right eye. His optic nerve head was markedly swollen in the right eye and normal in the left eye. His right eye movements were partially limited in all directions. His corneal reflex and pinprick sensation in the frontal and maxillary regions were normal on both sides.
Isolated and Transient Nuclear Midbrain Blepharoptosis in a Young and Healthy Adult
Published in Neuro-Ophthalmology, 2020
Bulent Yazici, Gamze Ucan Gunduz, Nukhet Yargic
On examination, palpebral fissure heights were 2 mm OD and 1 mm OS. Levator excursions were 3 mm and 2 mm, respectively (Figure 1a). Except for mildly restricted abduction in the left eye, his extraocular eye movements were normal and the eyes were orthotropic. The pupils were isochoric and constricted to both light and near stimuli. The visual acuities were 20/20 OU. The other ocular findings were normal. Magnetic resonance imaging (MRI) demonstrated a lesion located predominantly on the left side of the dorsal caudal midbrain, which was 10 × 10 mm in diameter, iso-mildly hypointense on T1-weighted images and hyperintense on T2-weighted and fluid-attenuated inversion recovery images. The lesion showed contrast enhancement (Figure 2). Infectious diseases, immunology and haematology consultations, detailed blood tests and haemodynamic studies did not reveal any abnormalities.
A case of blepharophimosis: Freeman Sheldon syndrome
Published in Ophthalmic Genetics, 2022
Scott Bowman, Gwen Noble, Bahram Rahmani, Marilyn Mets, Hantamalala Ralay Ranaivo, Valerie Castelluccio
Directly preceding the ophthalmological exam under anesthesia at 5.5 weeks of age, the patient underwent gastrostomy tube insertion. During the anesthetic induction, our patient required three intubation attempts. After the third intubation attempt, the patient was noted to have diminished right-sided breath sounds on the auscultation and a STAT chest x-ray revealed tension pneumothorax on the right side. Pediatric surgery emergently placed a right chest tube, and respiratory status stabilized with the patient remaining hemodynamically stable throughout the rest of the procedure. After successful G-tube placement, the ophthalmological exam revealed hypertelorism, epicanthus palpebralis and narrowed palpebral fissures vertically and horizontally (13 mm right eye and 15 mm left eye horizontally). The eyelids were retracted using Desmarres retractors for improved view (Figure 3). Bilaterally, the conjunctiva was white and quiet, the cornea was clear, the anterior chamber was deep and quiet, the iris was flat, and the lens and the vitreous clear. A dilated fundus exam showed sharp and pink optic nerves with a cup-to-disc ratio of 0.1, good foveal reflex, and normal vessels bilaterally. A peripheral retinal exam was limited secondary to minimal opening of eyelids.
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