Pycnodysostosis at Otorhinolaryngology

• Published in: International journal of pediatric otorhinolaryngology 2017-04, Vol.95, p.91-96
• Main Authors: Fatih Topuz, Muhammet, Binnetoglu, Adem, Sarı, Murat, Baglam, Tekin, Turan, Serap
• Format: Article
• Language: English
• Subjects: Adenoidectomy - adverse effects; Adenoidectomy - methods; Adenoids - pathology; Adenotonsillectomy; Adolescent; Cephalometry; Child; Diagnosis, Differential; Female; Humans; Male; Maxillofacial abnormalities; Otolaryngology; Palatine Tonsil - pathology; Pediatrics; Polysomnography; Pycnodysostosis; Pycnodysostosis - complications; Pycnodysostosis - diagnosis; Pycnodysostosis - therapy; Quality of Life; Retrospective Studies; Sleep apnea; Sleep Apnea Syndromes - etiology; Sleep Apnea Syndromes - surgery; Sleep Apnea, Obstructive - surgery; Tonsillectomy - adverse effects; Tonsillectomy - methods
• ISSN: 0165-5876; 1872-8464
• DOI: 10.1016/j.ijporl.2017.02.009

Abstract Aim Pycnodysostosis is a rare autosomal, recessive, skeletal dysplasia caused by a mutation in the cathepsin k gene. Pycnodysostosis is characterized by short stature, characteristic facial appearance (delayed closure of fontanelles and cranial sutures, mandibular hypoplasia and angle disorder, blue sclera), and acroosteolysis of the distal phalanges. Our aim was to describe the otorhinolaryngologic findings, differential diagnoses, various treatment options, and followup in eight cases of pycnodysostosis. Method This retrospective clinical study used data from eight patients diagnosed with pycnodysostosis by a single pediatric endocrinologist primarily based on clinical and radiographic findings. All patients were referred to the otorhinolaryngology outpatient clinic by the pediatric endocrinology unit of the Marmara University between February 2013 and March 2015. Detailed medical histories were obtained in all cases and otorhinolaryngologic physical examination, blood assays, electrocardiogram, lateral skull X-rays, chest radiograph, cephalometric investigations, tympanograms, and audiograms were also carried out. Sleep videos of patients were recorded and those with upper airway problems were evaluated for sleep apnea by polysomnography. Informed consent form was obtained from the parents of all patients. Results Eight patients (7 females and 1 male) displaying proportionate dwarfism were included in the study. They had a mean age of 14.7 years (range: 13-16 y), the mean height of 141.3 cm (range 132-155 cm), and mean weight of 44.4 kg (range: 39.6-49.3 kg). All patients had facial dysmorphism with frontal bossing and the hands and feet had short digits with overlying cutaneous wrinkles that tapered off with large overriding nails. Midfacial hypoplasia and malocclusion were observed in seven of the eight patients (87.5%), four (50%) had micrognathia, and five (62.5%) had proptosis. Tympanograms and audiograms of all patients were type A and normal, and the mean of the pure tone audiogram was 13.3 dB (range: 10-16 dB). All patients had a narrow and grooved palate with disturbed dentition; two of them (25%) had mild markedness of the tongue base, five (62.5%) had grade 3 and three (37.5%) had grade 2 tonsillar hypertrophy, and five (62.5%) had adenoid hypertrophy. One patient (12.5%) had grade 3 Mallampati, four (50%) showed grade 2 Mallampati while three (37.5%) patients displayed grade 1 Mallampati score. Further, while six (75%) patients had