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Paediatrics
Published in Adnan Darr, Karan Jolly, Jameel Muzaffar, ENT Vivas, 2023
Paula Coyle, Eishaan Bhargava, Adnan Darr, Karan Jolly, Kate Stephenson, Michael Kuo
Examination: Examine for other craniofacial abnormalities: Ears: Microtia, pits, tags (Treacher Collins/Goldenhar), CN function (Goldenhar), glue ear (ETD) and cholesteatomaNose: LL cartilage inferior, with alae retro-displacedAnterior septum and ANS deflected to normal side, along with columella (as attaches to palatine shelf of normal side)Posterior bony septum shifted to cleft sideMandible: Retrognathia (PRS)Lip: Pits in lower lip (Van Der Woude syndrome)Pharynx: Submucous cleft may have muscular (abnormal attachment of TVP) or bony deformityPaediatric assessment: Heart, GU, limb etc.
Differential Diagnosis
Published in Vineet Relhan, Vijay Kumar Garg, Sneha Ghunawat, Khushbu Mahajan, Comprehensive Textbook on Vitiligo, 2020
Hemant Kumar Kar, Gunjan Verma
Hypomelanosis of Ito (HI) presents as bizarre whorled areas of depigmentation along Blaschko lines. HI, or incontinentia pigmenti achromians, is a rare neurocutaneous syndrome first described by Ito in 1952 as a purely cutaneous disease with skin hypopigmentation. Current theory suggests that hypomelanosis of Ito is a nonspecific manifestation of chromosomal mosaicism; however, chromosomal alteration have not been demonstrated in every case of HI. The clinical manifestations of HI are variable, but the most remarkable clinical markers are distinct patterns of skin involvement along the lines of Blaschko consisting of hypopigmented bizarre macular zones or spots with irregular borders, whorls, patches, or linear white streaks with various patterns of distribution and color that frequently appear on the trunk, occasionally on the extremities, and seldom on the face and scalp, with sparing of the palms, soles, and mucous membranes. Histopathologically, there is a decreased number and size of melanosomes in the basal layer of the epidermis. Other manifestations include patchy alopecia and nail abnormalities including ridging, dystrophy, and absence of nails. Dental abnormalities include increased tooth spacing and abnormal number, size, and shape. Craniofacial abnormalities include macrocephaly, low-set ears, small nose, and orbital hypertelorism. A wide variation of neurologic involvement is reported in HI, including developmental delay (40%–60%), epilepsy with early onset in life (11.5%–50%), and autistic behavior [9].
Ear, nose and throat disorders
Published in Rachel U Sidwell, Mike A Thomson, Concise Paediatrics, 2020
Rachel U Sidwell, Mike A Thomson
This is upper airway obstruction with periods of desaturation. It is usually due to adenotonsillar hypertrophy. Children with certain craniofacial abnormalities are more at risk. Children with sickle cell disease are particularly affected due to a lower resting oxygen saturation and propensity to precipitate a sickle crisis. There is a spectrum of disease from mild and intermittent, e.g. with a URTI, to marked desaturation.
Laryngoscopes for difficult airway scenarios: a comparison of the available devices
Published in Expert Review of Medical Devices, 2018
The literature describes the use of a light wand for managing difficult airways in adults and children [108–111]. Fisher and Tunkel [109] presented a successful use of Trachlight in 125 children under the age of 10 years with normal airway. Xue et al. [108] reported four cases of children aged 6–10 years with craniofacial abnormalities who were managed with Trachlight-guided intubations. Additionally, a randomized study by Inoue et al. [112] performed among 148 patients with cervical spondylolysis undergoing intubation under general anesthesia showed a 97% efficacy of the Trachlight guide compared with 73% efficacy in the case of the endotracheal mask.
Oculo-auriculo-vertebral spectrum and maternal drug ingestion: cause or coincidence?
Published in Hearing, Balance and Communication, 2023
Joana Raquel Costa, Miguel Bebiano Coutinho, Teresa Soares, Luís Meireles
Generally, the OAVS phenotype can range from mild to severe. Craniofacial abnormalities include asymmetric ear anomalies (preauricular tags and pits, ear dysplasia, anotia, microtia) with or without hearing loss (conductive and/or sensorineural); hemifacial microsomia resulting in facial asymmetry; orofacial clefts; ocular defects (epibulbar dermoids, microphthalmia, coloboma of upper eyelid); vertebral abnormalities; and a set of many other anomalies that may be present involving cranial nerves, brain, vascular and salivary gland [11–14].
The risk of obstructive sleep apnea and its association with indices of general and abdominal obesity in a Nigerian family practice clinic: a cross-sectional study
Published in Alexandria Journal of Medicine, 2020
Olayemi Fehintola Awopeju, Michael Bimbo Fawale, Samuel Anu Olowookere, Oluwasina Titus Salami, Olufemi Olanisun Adewole, Gregory Efosa Erhabor
Excluded patients were those on sedative or anxiolytic drugs and those who had obvious craniofacial abnormalities. All participants gave verbal informed consent and permission to conduct the study was obtained from the Head of general outpatient clinic. All the completed questionnaires were anonymous, and no personal identifiers were collected.