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Cleidocranial Dysplasia Presenting With Mixed Dentition in a 28-Year-Old Male: A Case Report.
Cureus
July 2024
Department of Oral Medicine and Radiology, Sharad Pawar Dental College and Hospital, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
Article Synopsis
- Cleidocranial dysplasia (CCD) is a rare genetic disorder affecting the skeletal system, caused by a mutation on chromosome 6 that impacts bone development.
- *The condition features include open cranial sutures, absent or underdeveloped clavicles, short stature, and facial deformities, leading to dental issues like class III malocclusion.
- *A case study was reported involving a 28-year-old patient who sought medical help due to poor aesthetics related to CCD.
Long-Term Follow-Up of Apert Syndrome Following Mid-Face Advancement: More Than 3 Decades Later.
J Craniofac Surg
June 2024
Department of Cleft and Craniofacial South Australia, Women's and Children's Hospital, South Australia, Australia.
Apert syndrome is characterized by craniosynostosis, a hypoplastic mid-face, skeletal abnormalities, symmetric syndactyly of the hands and feet, and a degree of neurocognitive impairment. Long-term outcomes of patients who have undergone surgical correction of Apert syndrome are limited. The authors present the case of a 73-year-old female with Apert syndrome, with follow-up of more than 3 decades following a fronto-orbital advancement and Le Fort III advancement.
View Article and Find Full Text PDFCerebrocostomandibular syndrome: a diagnostic challenge.
BMJ Case Rep
May 2024
Department of Neonatology, Rotunda Hospital, Dublin, Ireland
A male infant born in a tertiary maternity facility was noted to have microretrognathia, a small mouth and macroglossia at delivery. He was born limp and apnoeic and required multiple attempts at intubation before a definitive airway was eventually sited. Chest X-rays, while in the paediatric intensive care unit, demonstrated dysplastic ribs with associated 'high-riding' clavicles.
View Article and Find Full Text PDF[Analysis of a child with SPONASTRIME dysplasia due to compound heterozygous variants of TONSL gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
May 2024
Department of Pediatrics, Linyi People's Hospital, Linyi, Shandong 276000, China.
Objective: To explore the clinical features and genetic etiology of a child with SPONASTRIME dysplasia (SD).
Methods: A 9-month-old female who had presented at the Linyi People's Hospital in August 2022 for short stature was selected as the study subject. Clinical data of the child were collected, and whole exome sequencing (WES) was carried out.
The Role of Airway Management on Feeding Difficulties in Children With Pfeiffer Syndrome.
J Craniofac Surg
October 2023
Department of Paediatric ENT Surgery, Alder Hey Children's NHS Foundation Trust.
Background: Pfeiffer syndrome is characterized by craniosynostosis, mid-face hypoplasia, broad thumbs, and often multilevel airway obstruction. Airway management is often required, including the use of positive airway ventilation, nasopharyngeal airway (NPA), or tracheostomy.
Objective: The objective of this study was to assess the impact an airway adjunct can have on feeding difficulties in children with Pfeiffer syndrome.
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