Skeletal Dysplasias That Cause Thoracic Insufficiency in Neonates

Ipek, Mehmet Sah; Özmen, Cihan Akgül

doi:10.1097/md.0000000000003298

Cited by 7 publications

(5 citation statements)

References 26 publications

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“…[2][3][4] The average incidence of all types of SD is more than 1 in every 5000 newborns. [5][6][7] The real incidence rate may be higher because SD includes both viable as well as life-limiting and lethal disorders. 2,3 It is suggested that SD of the fetus has an incidence rate of about 5 in every 1000 pregnancies.…”

Section: Introductionmentioning

confidence: 99%

Lethal and life-limiting skeletal dysplasias: Selected prenatal issues

Stembalska¹,

Dudarewicz²,

Śmigiel³

2021

Adv Clin Exp Med

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Skeletal dysplasias are a heterogeneous group of congenital bone and cartilage disorders with a genetic etiology. The current classification of skeletal dysplasias distinguishes 461 diseases in 42 groups. The incidence of all skeletal dysplasias is more than 1 in every 5000 newborns. The type of dysplasia and associated abnormalities affect the lethality, survival and long-term prognosis of skeletal dysplasias. It is crucial to distinguish skeletal dysplasias and correctly diagnose the disease to establish the prognosis and achieve better management. It is possible to use prenatal ultrasonography to observe predictors of lethality, such as a bell-shaped thorax, short ribs, severe femoral shortening, and decreased lung volume. Individual lethal or life-limiting dysplasias may have more or less specific features on prenatal ultrasound. The prenatal features of the most common skeletal dysplasias, such as thanatophoric dysplasia, osteogenesis imperfecta type II, achondrogenesis, and campomelic dysplasia, are discussed in this article. Less frequent dysplasias, such as asphyxiating thoracic dystrophy, fibrochondrogenesis, atelosteogenesis, and homozygous achondroplasia, are also discussed.

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Section: Introductionmentioning

confidence: 99%

Lethal and life-limiting skeletal dysplasias: Selected prenatal issues

Stembalska¹,

Dudarewicz²,

Śmigiel³

2021

Adv Clin Exp Med

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“…In its severe form, the prognosis is grim. The chest is too small to accommodate growing lungs, which compromises the respiratory system 17 and leads to recurrent life-threatening bouts of pneumonia. In these cases, death occurs either neonatally or within the 1st year of life.…”

Section: Discussionmentioning

confidence: 99%

Sonographic Criteria for Diagnosing Jarcho-Levin Syndrome

Lutke

2017

Journal of Diagnostic Medical Sonography

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This is a case study of Jarcho-Levin syndrome, which is a rare genetic disorder described as a malformation of bones in the spinal column and the ribs. This disorder can be an autosomal recessive or dominant trait. Those affected by this disorder have respiratory insufficiency and potentially other abnormalities. Recurrent respiratory infections are expected. In milder cases, surgery is a possibility, but in severe cases, prognosis is poor. OB sonography can aid in diagnosis of Jarcho-Levin syndrome in patients with no known family history of the disease, but it is particularly helpful in known at-risk cases.

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“… Skeletal dysplasia encompasses a series of >400 heterogeneous disorders affecting any or a combination of bone or cartilage development, growth, and structure. 54 , 55 Many of these abnormalities result in a small or deformed thorax, increasing the risk of airway malformation and pulmonary hypoplasia, which is significantly associated with lethality. 56 Diagnosis and subsequent pulmonary consequences have been evaluated using ultrasound parameters of thoracic-to-abdominal or thoracic-to-head-circumference ratios.…”

Section: Background: Normal Lung Developmentmentioning

confidence: 99%