A novel sclerosing skeletal dysplasia with mixed sclerosing bone dysplasia, characteristic syndromic features, and clinical and radiographic evidence of male-male transmission.

We report on a father and his 4-year-old son sharing a characteristic dysmorphic facial phenotype (including hyperteleroism, prominent forehead, and wide nasal bridge), macrocephaly, hearing loss, palatal clefting, developmental delay, hypotonia and bony abnormalities including marked cranial sclerosis and sclerosis of the ribs and long bones, which evolved in severity in the son between the ages of 2 and 4 years. The father's radiographs also showed prominent coarse striations, patchy metaphyseal sclerotic plaques, markedly increased bone density and cortical thickening of long bones, and significant degenerative changes in the thoracic spine. The son has an additional history of sleep apnea resulting from multi-level airway obstruction that includes adenoid hypertrophy, lingual tonsil hypertrophy, subglottic stenosis, and supra-arytenoid tissue consistent with laryngomalacia and tracheomalacia. The clinical, radiographic, and genetic findings in father and son are consistent with a sclerosing skeletal dysplasia syndrome with similarities to mixed sclerosing bone dysplasia (MSBD) including metaphyseal plaques, osteopathia striata, and cranial sclerosis (OS-CS). This family may represent one of the first descriptions of familial inheritance and evolving phenotype in MSBD. The evidence for male-male transmission would support the existence of an autosomal mechanism of inheritance for a novel form of MSBD with characteristic syndromic features.

Pediatric laryngeal cleft repair with coblation: Functional comparison of a novel technique with traditional methods.

OBJECTIVES: The traditional endoscopic techniques for surgical management of laryngeal clefts are carbon dioxide (CO2) laser or microlaryngeal instruments (cold steel). This study compares the functional efficacy and safety of coblation, or "cold" radiofrequency ablation, to traditional approaches for endoscopic laryngeal cleft repair. METHODS: Patients who underwent endoscopic laryngeal cleft repair with CO2 laser, cold steel, or coblator at two tertiary academic centers from 2015 to 2021 were retrospectively identified. The primary outcome studied was swallowing function: pre- and postoperative swallow studies were scored according to the International Dysphagia Diet Standardization Initiative with higher scores indicating worse swallow function. Secondary outcomes included surgical complications and rates of dehiscence. RESULTS: Of the 53 patients included, 14 underwent repair with CO2 laser, 23 with cold steel, and 16 with the coblator. Mean age at surgery was 2.2 ± 1.1 years for the laser group, 4.3 ± 4.0 years for cold steel, and 1.9 ± 1.4 years for the coblator group. In the laser group, 100% of clefts were type I; for the cold steel group, 82.6% of clefts were type I and 17.4% were type II; for the coblator group, 93.8% of clefts were type I and 6.3% were type II. Pre- and postoperative swallow study scores were 6.3 ± 2.8 and 4.3 ± 3.2, respectively, (p = 0.001) for the laser group, 6.9 ± 2.8 and 5.3 ± 3.1 (p = 0.071) for the cold steel group, and 7.5 ± 1.5 and 4.0 ± 2.9 (p < 0.001) for the coblator group. Mean change in swallow study scores were similar across the three groups (p = 0.212). No patients experienced postoperative dehiscence at the surgical site or complications; no revisions were required. CONCLUSIONS: Cleft repair with the novel coblation technique showed significant improvements in swallow study scores without any occurrences of postoperative dehiscence or revisions. Coblation is a safe and efficacious approach for laryngeal cleft repair.

Abnormal sensorimotor integrative function of the larynx in congenital laryngomalacia: a new theory of etiology.

OBJECTIVES/HYPOTHESIS: Laryngomalacia is an enigmatic disease in which laryngeal tone is weak, resulting in dynamic prolapse of tissue into the larynx. Sensorimotor integrative function of the brainstem and peripheral reflexes are responsible for laryngeal tone and airway patency. The goal of this study was to elucidate the etiology of decreased laryngeal tone through evaluating the sensorimotor integrative function of the larynx. The secondary goal was to evaluate factors and medical comorbidities that contribute to the wide spectrum of symptoms and outcomes. STUDY DESIGN: Prospective and retrospective collection of evaluative data on infants with congenital laryngomalacia at two tertiary care pediatric referral centers. METHODS: Two hundred one infants with laryngomalacia were divided into three groups on the basis of disease severity (mild, moderate, severe). Patients were followed prospectively every 8 to 12 weeks until symptom resolution or loss to follow-up. Sensorimotor integrative function of the larynx was evaluated in 134 infants by laryngopharyngeal sensory testing (LPST) of the laryngeal adductor reflex (LAR) by delivering a duration- (50 ms) and intensity- (2.5-10 mm Hg) controlled air pulse to the aryepiglottic fold to induce the LAR. Medical records were retrospectively reviewed for medical comorbidities. RESULTS: The initial LPST was higher (P < .001) in infants with moderate (6.8 mm Hg) and severe disease (7.4 mm Hg) compared with those with mild disease (4.1 mm Hg). At 1, 3, and 6 months, infants with moderate and severe disease continued to have a higher LPST compared with those with mild disease. At 9 months, the LPST decreased in all subjects (3.1-3.5 mm Hg, P = .14), which also correlated with symptom resolution. Neurologic, genetic, and cardiac diseases were more common in infants with severe disease (P < .001). Gastroesophageal reflux disease (GERD) and feeding problems more common in those with moderate and severe disease (P < .001). Apgar scores were lower in those with severe disease (P < .001). Most symptoms resolved within 12 months of presentation. Those with GERD benefited from treatment. Supraglottoplasty resulted in few complications. Multiple comorbidities (>3) influenced the need for tracheotomy. CONCLUSIONS: Laryngeal tone and sensorimotor integrative function of the larynx is altered. The degree of alteration correlated with disease severity, indicating that factors that alter the peripheral and central reflexes of the LAR have a role in the etiology of signs and symptoms of laryngomalacia. GERD, neurologic disease, and low Apgar scores influenced disease severity and clinical course, explaining the spectrum of disease symptoms and outcomes. Sensorimotor integrative function improved as symptoms resolved.

Pediatric stridor.

Pediatric stridor is an important symptom of upper airway obstruction, and must be recognized early by evaluating physicians. Proper evaluation and management, both acutely and chronically, can provide improved outcomes and better quality of life for patients. This article discusses the physiology of stridor and its intimate relation to airway anatomy, the work-up of the stridorous child, and recent advances in treatment, and provides illustrative examples of common lesions.