Fetal Skeletal Lethal Dysplasia: Case Report

Savoldi, Alexandre Mello; Villar, Maria Auxiliadora Monteiro; Machado, Heloisa Novaes; Júnior, Juan Clinton Llerena

doi:10.1055/s-0037-1603943

Cited by 2 publications

(8 citation statements)

References 21 publications

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“…The most common types of lethal or life-limiting SDs are thanatophoric dysplasia (26%), osteogenesis imperfecta type II (14%), achondrogenesis (9%), and campomelic dysplasia (2%). 22 The inheritance data, genes involved, OMIM code (Online Mendelian Inheritance in Man), and Orphanet code (portal for rare disease and orphan drugs) for these conditions are summarized in Table 1. Individual lethal or life-limiting dysplasias may have more or less specific features.…”

Section: Selected Examples Of the Most Common Lethal And Life-limitin...mentioning

confidence: 99%

“…Radiographic features include Wormian bones, multiple fractures, crumbled bones, and characteristic beading of the ribs due to healing callus formation. 10,15,22,24,25 3. Achondrogenesis type Ia, Ib, II (ACG1A, ACG1B, ACG2) is caused by autosomal recessive mutations in the TRIP11 gene (type Ia) (OMIM 604505) or the SLC26A2 gene (type Ib) (OMIM 606718) and de novo autosomal dominant mutations in the COL2A1 gene (type II).…”

Section: Selected Examples Of the Most Common Lethal And Life-limitin...mentioning

confidence: 99%

“…Other features are a narrow chest with short, wide ribs and a round and prominent abdomen, and facial dysmorphism (prominent eyes, a flat midface with a small nose and flat nasal bridge, micrognathia). 22,30 3. Atelosteogenesis type I, II or III (AO1, AO2, AO3) results from autosomal dominant mutations in the FLNB gene (type I and III) (OMIM 603381) or autosomal recessive mutations in the SLC26A2 gene (type II).…”

Section: Other Less Common Lethal Skeletal Dysplasiasmentioning

confidence: 99%

“…Polyhydramnios in atelosteogenesis type 1 and hydrocephalus in type III may occur. 22,31 4. Homozygous achondroplasia (ACH) results from homozygous mutations in the FGFR3 gene (OMIM 134934).…”

Section: Other Less Common Lethal Skeletal Dysplasiasmentioning

confidence: 99%

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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: Selected Examples Of the Most Common Lethal And Life-limitin...mentioning

confidence: 99%

Section: Selected Examples Of the Most Common Lethal And Life-limitin...mentioning

confidence: 99%

Section: Other Less Common Lethal Skeletal Dysplasiasmentioning

confidence: 99%

Section: Other Less Common Lethal Skeletal Dysplasiasmentioning

confidence: 99%

See 2 more Smart Citations

Lethal and life-limiting skeletal dysplasias: Selected prenatal issues

Stembalska¹,

Dudarewicz²,

Śmigiel³

2021

Adv Clin Exp Med

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“…More than 456 diff erent diseases are known, divided into 40 categories according to their main characteristics (radiologic fi ndings, molecular etiology, mode of inheritance) and caused by mutations in more than 430 genes. Of these, 40% can be detected in the perinatal period, accounting for 9 deaths per 1000 births [1]. The most common lethal DMs are thanatophoric dysplasia and the achondrogenesis group, which account for 40-60% of all cases [1,2].…”

Section: Introductionmentioning

confidence: 99%

Thanatophoric Dysplasia: Literature Review and Clinical Case in Monochoric Diamniotic Twins

Lastivka,

Babintseva,

Antsupova

et al. 2023

Neonatol. hìr. perinat. med.

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Thanatophoric dysplasia, TD (OMIM: 187600, 87601) belongs to the group of FGFR3 chondrodysplasias and is divided intotypes I and II. The incidence of TD is approximately 1:20,000-50,000 newborns. TD is usually caused by pathogenic variantsin the FGFR3 gene, which provides instructions for making a protein involved in the development and maintenance of bone andbrain tissue. Mutations in the gene result in excessive protein activity. TD is inherited as an autosomal dominant trait, althoughcases of autosomal recessive inheritance have been described.According to the radiologic changes of the bones and skull, there are 2 clinical types of TD: type I (TD1, MIM 187600) andtype II (TD2, MIM 187601) with some overlap between them. Type I TD is characterized by micromelia with curved femurs,marked platyspondylia with or without a cloverleaf skull. TD type II is characterized by micromelia with straight femurs andthe uniform presence of moderate to severe craniosynostosis with a leaf-shaped skull deformity due to premature closure of the coronal and lambdoid sutures..The diagnosis of TD is made syndromologically and/or radiologically and/or by detection of a heterozygous pathogenicFGFR3 variant identifi ed by molecular genetic testing.The article presents a rare clinical case of TD in monochorionic dizygotic twins with a fatal outcome. During prenatalultrasound examination at 26-27 and 35-36 weeks of gestation, signs of skeletal dysplasia were diagnosed in both fetuses against the background of pronounced polyhydramnios. It should be noted that the father of the children is over 60 years old.The diagnosis of both children was made syndromologically and radiologically based on the detection of phenotypic signs of TD(predominance of the skull over the face, short upper and lower limbs, altered shape of the chest, infl amed nasal bridge) and radiological signs of TD (short ribs, narrow chest, relative macrocephaly, micromelia of all limbs). Genetic testing for TD was not performed.The clinical case was published with the consent of the parents in accordance with the principles of bioethics.

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Fetal Skeletal Lethal Dysplasia: Case Report

Cited by 2 publications

References 21 publications

Lethal and life-limiting skeletal dysplasias: Selected prenatal issues

Lethal and life-limiting skeletal dysplasias: Selected prenatal issues

Thanatophoric Dysplasia: Literature Review and Clinical Case in Monochoric Diamniotic Twins

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