Special manifestations and treatment of rare cases of snoring with special facial features and hearing loss in children

Abstract

This current case report describes two rare cases of children with both hearing loss and snoring. Case 1, a 17-month-old male patient, and case 2, an 11-year-old male patient, both presented with nasal obstruction, snoring and hearing loss. Physical examinations showed obvious enlargement of the head circumference and special facial features. The two children underwent otolaryngology examinations, endoscopy, hearing tests, laboratory examinations for bone metabolism markers, cranial computed tomography, X-rays and genome-wide exon sequencing. The first case was diagnosed with craniometaphyseal dysplasia, which was relieved after giving a low-calcium diet. The second case was diagnosed with osteopathia striata with cranial sclerosis by gene sequencing. Snoring improved after medication and the speech and quality of life improved with a hearing aid. Paediatric otolaryngological physicians need to have a deeper understanding of congenital diseases involving the bones. Only by genetic testing to determine the pathogenesis can those children be given the correct treatment, which is of great importance for improving their prognosis.

Bone Mineralization Regulation: Using Zebrafish as a Model to Study ANKH-associated Mineralization Disorders

“…Craniometaphyseal Dysplasia (CMD) is a rare disorder characterized by excessive mineralization of the skull and long bones [1]. Clinical features of this disease include flared long bone metaphyses, and several skull anomalies such as a wide nasal bridge, paranasal bossing, increased bizygomatic width and a prominent mandible [2]. Though less obvious phenotypically, the most severe functional consequences of CMD arise from progressive thickening of the cranial base.…”