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Children with Special Needs
Published in Raymond W Clarke, Diseases of the Ear, Nose & Throat in Children, 2023
This is now known to be caused by a gene defect, most commonly in the TOCF1 gene which codes for a protein known as ‘treacle’. It is inherited in an autosomal dominant pattern but with varying severity. ENT features include abnormalities of the pinna, microtia, conductive deafness, cleft palate, choanal atresia, and mandibular and maxillary hypoplasia. Micrognathia can cause severe airway problems necessitating a tracheostomy (Figure 3.2).
Adenotonsillar Conditions and Obstructive Sleep Apnoea
Published in R James A England, Eamon Shamil, Rajeev Mathew, Manohar Bance, Pavol Surda, Jemy Jose, Omar Hilmi, Adam J Donne, Scott-Brown's Essential Otorhinolaryngology, 2022
Bilateral mandibular distraction osteogenesis and rapid maxillary expansion are reliable techniques for patients with symptomatic micrognathia. In patients with Beckwith-Wiedemann syndrome and other selected syndromes with macroglossia, tongue reduction may be indicated.
Second-trimester screening for fetal abnormalities
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Jolene C. Muscat, Anthony M. Vintzileos
After the fetal head is evaluated, the fetal facial structures are examined. A range of genetic syndromes and disorders are associated with characteristic facial features, and thorough evaluation of the fetal face can aid in supporting or excluding their diagnosis. Obtaining a combination of coronal, sagittal, and axial views is necessary to complete the facial evaluation. To begin, a fetal profile should be obtained in the sagittal plane (Fig. 5). This allows for proper visualization of the frontal bone, nasal bone, and fetal chin. Absent or shortened nasal bone may indicate fetal aneuploidy and will be discussed later in this chapter. Micrognathia has also been associated with a variety of genetic syndromes and disorders, making characterization of the fetal chin important. The fetal nose and lips should be imaged in coronal plane and the anterior palate should be visualized to exclude cleft lip and palate.
First-trimester detection of micrognathia as a presentation of mandibulofacial dysostosis with microcephaly
Published in Journal of Obstetrics and Gynaecology, 2021
Bi-Qiu Xu, Li Zhen, Dong-Zhi Li
MFDM is a rare disorder. Its exact prevalence is unknown. Up to now, more than 60 affected individuals have been described in the literature (Huang et al. 2016). The present case is the first one with MFDM identified at as early as 12 weeks’ gestation. For first-trimester micrognathia, chromosomal abnormalities account for the majority of cases. The combination of micrognathia and normal karyotype has been described in genetic syndromes such as Pierre-Robin anomalad, acrofacial dysostosisa and oro-facial-digital syndromes, caused by single gene defects (Kimakhe et al. 2017; Mouthon et al. 2019). Therefore, after ruling out a chromosome abnormality, the detection of other rare genetic syndromes should be discussed with women with foetal micrognathia. An early prenatal diagnosis would benefit pregnancy management. Polyhydramnios also appears to be a prenatal indicator for MFDM since oesophageal atresia is present in about 40% of affected individuals. However, polyhydramnios or a small/absent stomach was present at relatively late gestation and in only about half of cases affected by oesophageal atresia (Pardy et al. 2019). Other second or third trimester manifestations may include intrauterine growth restriction, heart defects and renal anomalies.
Genotype-phenotype variability in Chinese cases of Treacher Collins syndrome
Published in Acta Oto-Laryngologica, 2019
Xiaohong Li, Yu Su, Shasha Huang, Bo Gao, Dejun Zhang, Xiaobin Wang, Qin Gao, Hong Pang, Yan Zhao, Yongyi Yuan, Pu Dai
The patient, a 20-year-old male, had bilateral cupped protruding ears and stenosis of the external auditory canals. Audiometry revealed bilateral conductive hearing loss of approximately 75 dB (Figures 1(B) and 2(B)) that was successfully treated by surgery. Temporal bone CT scans performed on the proband showed a hypoplastic zygomatic arch and an ossicular chain deformity (Figure 4(B)). Other striking features included lateral downward sloping of the palpebral fissures, colobomas of the lower eyelids and mandibular micrognathia with retrognathia. His mother had bilateral conductive hearing loss (Figures 1(B) and 2(B)) and normal craniofacial development. Molecular investigations of the proband and his mother showed a pathogenic mutation c.4131_4135delAAAAG(NM_000356) in exon 24 of TCOF1 resulting in the formation of a premature stop codon that truncates the predicted protein (Figure 3(B)). This variant was frequently detected in previous reports.
Early photoreceptor outer segment loss and retinoschisis in Cohen syndrome
Published in Ophthalmic Genetics, 2018
Katherine E. Uyhazi, Gil Binenbaum, Nicholas Carducci, Elaine H. Zackai, Tomas S. Aleman
A 13-month old full-term Caucasian girl from a non-consanguineous family of Irish and Hispanic ancestry was noted to have micrognathia and laryngomalacia at birth. She weighed 2325 grams (50th percentile for 34 weeks). At 6 weeks of age, her weight was in the 50th percentile for 37 weeks, her length was in the 50th percentile for a 2-week old infant, and her head circumference was in the 2nd percentile. She required a 3-month admission in the intensive care unit for difficulty feeding, respiratory distress, and failure to thrive, which improved significantly after supraglottoplasty, bilateral mandibular osteotomies with distractor placement, and gastrostomy tube placement. Magnetic resonance imaging of the brain was unremarkable. Genetic testing was performed to identify a possible underlying cause of her developmental defects; a microarray panel showed a novel 60-kb deletion within chromosome 8q22.2 involving exons 26–32 of the COH1 (VPS13B) gene. In addition to this maternally inherited deletion, confirmatory testing revealed a paternally inherited 3.5-kb deletion within exon 17 of the COH1 gene consistent with a diagnosis of Cohen syndrome. This explained her intrauterine growth restriction, failure to thrive, microcephaly, micrognathia, hypotonia, and laryngomalacia. Developmentally, at 9 months she was able to sit when placed, smile, and rollover. At 12 months, she was able to crawl. She was diagnosed with neutropenia at 12 months.