Skeletal Dysplasia: Respiratory Management During Infancy

Overview

Journal Respir Med

Publisher Elsevier

Specialty Pulmonary Medicine

Date 2017 Sep 27

PMID 28947027

Citations 9

Authors

Deepthi Alapati

Thomas H Shaffer

Affiliations

Soon will be listed here.

Abstract

Background: Skeletal dysplasia encompasses a variety of developmental disorders of the bone and cartilage that manifest as disproportionate shortening of limbs and trunk in the neonate. Many types of skeletal dysplasia are complicated by respiratory failure at or soon after birth and require intensive care and prolonged hospitalization. Respiratory complications in these infants are complex and are characterized by airway anomalies, restrictive lung disease due to a narrow and abnormally compliant chest wall, pulmonary hypoplasia, and central apnea. Appropriate management of these unique patients requires a clear understanding of the pathophysiology and use of pulmonary function tests for early recognition and management of complications.

Conclusion: This review provides an overview of the underlying respiratory pathology and a practical guide to the newborn care provider for the diagnosis and management of respiratory complications in infants with skeletal dysplasia.

Citing Articles

A Rare Case of Dyggve-Melchior-Clausen Syndrome: A Case Report.

Chavan S, Chalipat S, Verma S, Kumar G, Mane S Cureus. 2024; 16(9):e69495.

PMID: 39416591 PMC: 11483161. DOI: 10.7759/cureus.69495.

Fatality owing to pulmonary hemorrhage following pamidronate disodium administration in a neonate with osteogenesis imperfecta type 2: A case report.

Nagoshi R, Amari S, Abiko Y, Wada Y, Ishiguro A, Horikawa R Clin Pediatr Endocrinol. 2024; 33(2):76-81.

PMID: 38572388 PMC: 10985016. DOI: 10.1297/cpe.2023-0061.

Severe skeletal dysplasia caused by a novel FLNB gene mutation.

Madan I, Jackson F, Sahni S, Figueroa R BMJ Case Rep. 2024; 17(3).

PMID: 38453218 PMC: 10921501. DOI: 10.1136/bcr-2023-257998.

Paediatric syndromic scoliosis: proceedings of the half-day course at the 57th annual meeting of the Scoliosis Research Society.

Mehta J, Pahys J, Saad A, Sponseller P, Andras L, Marks D Spine Deform. 2024; 12(3):523-543.

PMID: 38366266 DOI: 10.1007/s43390-024-00822-1.

What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review.

Sforza E, Margiotta G, Giorgio V, Limongelli D, Proli F, Kuczynska E Genes (Basel). 2023; 14(1).

PMID: 36672940 PMC: 9858955. DOI: 10.3390/genes14010199.

References

Liggins G, Vilos G, Campos G, Kitterman J, Lee C . The effect of spinal cord transection on lung development in fetal sheep. J Dev Physiol. 1981; 3(4):267-74. View

Robison J, Otteson T . Increased prevalence of obstructive sleep apnea in patients with cleft palate. Arch Otolaryngol Head Neck Surg. 2011; 137(3):269-74. DOI: 10.1001/archoto.2011.8. View

Katz E, Mitchell R, DAmbrosio C . Obstructive sleep apnea in infants. Am J Respir Crit Care Med. 2011; 185(8):805-16. PMC: 5448577. DOI: 10.1164/rccm.201108-1455CI. View

Miller T, Cox T, Blackson T, Paul D, Weiss K, Shaffer T . Pulmonary function assessment in an infant with Barnes syndrome: proactive evaluation for surgical intervention. Pediatrics. 2006; 118(4):e1264-7. DOI: 10.1542/peds.2006-0135. View

Ducharme F, Davis G, Ducharme G . Pediatric reference values for respiratory resistance measured by forced oscillation. Chest. 1998; 113(5):1322-8. DOI: 10.1378/chest.113.5.1322. View

Munns C, Rauch F, Mier R, Glorieux F . Respiratory distress with pamidronate treatment in infants with severe osteogenesis imperfecta. Bone. 2004; 35(1):231-4. DOI: 10.1016/j.bone.2004.03.008. View

Sims H, Kempiners J . Special airway concerns in patients with mucopolysaccharidoses. Respir Med. 2007; 101(8):1779-82. DOI: 10.1016/j.rmed.2007.02.013. View

Bhutani V, RITCHIE W, Shaffer T . Acquired tracheomegaly in very preterm neonates. Am J Dis Child. 1986; 140(5):449-52. DOI: 10.1001/archpedi.1986.02140190059026. View

Warman M, Cormier-Daire V, Hall C, Krakow D, Lachman R, Lemerrer M . Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A. 2011; 155A(5):943-68. PMC: 3166781. DOI: 10.1002/ajmg.a.33909. View

10.

Field T, Goldson E . Pacifying effects of nonnutritive sucking on term and preterm neonates during heelstick procedures. Pediatrics. 1984; 74(6):1012-5. View

11.

Laudadio R, Wolfson M, Shaffer T, Driska S . Developmental differences in the contractile response of isolated ovine tracheal smooth muscle cells. Pediatr Pulmonol. 2009; 44(6):602-12. PMC: 4367129. DOI: 10.1002/ppul.21042. View

12.

Plotkin H, Rauch F, Bishop N, Montpetit K, Ruck-Gibis J, Travers R . Pamidronate treatment of severe osteogenesis imperfecta in children under 3 years of age. J Clin Endocrinol Metab. 2000; 85(5):1846-50. DOI: 10.1210/jcem.85.5.6584. View

13.

Weaver K, Johnson J, Kline-Fath B, Zhang X, Lim F, Tinkle B . Predictive value of fetal lung volume in prenatally diagnosed skeletal dysplasia. Prenat Diagn. 2014; 34(13):1326-31. DOI: 10.1002/pd.4475. View

14.

Arens R, Marcus C . Pathophysiology of upper airway obstruction: a developmental perspective. Sleep. 2004; 27(5):997-1019. DOI: 10.1093/sleep/27.5.997. View

15.

Adzick N, Harrison M, Glick P, Villa R, Finkbeiner W . Experimental pulmonary hypoplasia and oligohydramnios: relative contributions of lung fluid and fetal breathing movements. J Pediatr Surg. 1984; 19(6):658-65. DOI: 10.1016/s0022-3468(84)80349-8. View

16.

Rauch F, Glorieux F . Osteogenesis imperfecta. Lancet. 2004; 363(9418):1377-85. DOI: 10.1016/S0140-6736(04)16051-0. View

17.

Martinon-Torres F . Noninvasive ventilation with helium-oxygen in children. J Crit Care. 2011; 27(2):220.e1-9. DOI: 10.1016/j.jcrc.2011.05.029. View

18.

Mortier G . The diagnosis of skeletal dysplasias: a multidisciplinary approach. Eur J Radiol. 2001; 40(3):161-7. DOI: 10.1016/s0720-048x(01)00397-7. View

19.

Henderson-Smart D, Read D . Ventilatory responses to hypoxaemia during sleep in the newborn. J Dev Physiol. 1979; 1(3):195-208. View

20.

Fremion A, Garg B, Kalsbeck J . Apnea as the sole manifestation of cord compression in achondroplasia. J Pediatr. 1984; 104(3):398-401. DOI: 10.1016/s0022-3476(84)81103-8. View