Co‐occurrence of achondroplasia and Down syndrome: Genotype/phenotype association

Moreira, Lília Maria de Azevedo; Matos, Marcos Almeida; Schiper, Patricia P.; Carvalho, Acácia Fernandes Lacerda de; Gomes, Ivalda C.; Rolemberg, José C.; Lima, Renata Lúcia Leite Ferreira de; Toralles, Maria Betânia Pereira

doi:10.1002/bdra.20653

Cited by 12 publications

(17 citation statements)

References 13 publications

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“…Achondroplasia and Down syndrome are relatively common conditions individually; however, co-occurrence of both conditions in the same patient is rare. The present case represents the seventh reported case of a combination of achondroplasia and Down syndrome (Sommer and Eaton 1970;Carakushansky et al 1998;Sanchez et al 1999;Chen et al 2000;Dabir et al 2008;de Azevedo Moreira et al 2010), and the features of cases with co-occurrence are presented in Table 1. Clinical signs and symptoms were similar among the cases, but the disorders were diagnosed at various ages.…”

Section: Discussionmentioning

confidence: 89%

“…bs_bs_banner Down syndrome is estimated to be one in 691 (Hickey et al 2012), but reports of patients with co-occurrence of the two are limited (Sommer and Eaton 1970;Carakushansky et al 1998;Sanchez et al 1999;Chen et al 2000;Dabir et al 2008;de Azevedo Moreira et al 2010). We report another case with achondroplasia associated with Down syndrome and the prenatal findings of the patient by US and three-dimensional (3-D) helical computed tomography (CT).…”

Section: Introductionmentioning

confidence: 89%

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Association of achondroplasia with Down syndrome: Difficulty in prenatal diagnosis by sonographic and 3‐D helical computed tomographic analyses

Kaga

Murotsuki

Kamimura

et al. 2015

Congenital Anomalies

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Section: Discussionmentioning

confidence: 89%

Section: Introductionmentioning

confidence: 89%

Association of achondroplasia with Down syndrome: Difficulty in prenatal diagnosis by sonographic and 3‐D helical computed tomographic analyses

Kaga

Murotsuki

Kamimura

et al. 2015

Congenital Anomalies

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“…Three of them were 47,XY,+21 (Sánchez et al 1999;Sommer and Eaton 1970), two were 47, XX,+21 (Carakushansky et al 1998;Dabir et al 2008) and one had 46,XY,i(21) karyotype (Chen et al 2000). Molecular genetic analysis was performed in three patients and the most common FGFR3 gene mutation (Gly380Ar) was found in two (Dabir et al 2008;Chen et al 2000), while G1138 mutation was found in one (de Azevedo Moreira et al 2010).…”

Section: Discussionmentioning

confidence: 96%

Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient

et al. 2011

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The simultaneous presence of Down syndrome and achondroplasia has rarely been reported in the literature, and our search revealed only six patients with such an association. We are reporting the first case of a patient with Down syndrome and hypochondroplasia. In this patient, Down syndrome was clinically recognised and confirmed by the cytogenetic finding of mosaic karyotype (47,XX,+21/46,XX) shortly after birth. She was subsequently diagnosed with hypochondroplasia at the age of 6 years when disproportional short stature, stocky habitus and macrocephaly were observed. These phenotypic findings were later confirmed by the presence of fibroblast growth factor receptor 3 (FGFR3) gene mutation N540K. The overlapping common clinical features of Down syndrome and hypochondroplasia resulted in delayed diagnosis of hypochondroplasia in our patient and the associated deleterious effect on her linear growth. Her final height is 126.5 cm, which is -3.76 standard deviations (SD) lower than the median height in patients with Down syndrome, and is under the lower borderline of the adult height range for women with hypochondroplasia.

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“…Some cases can be complicated, with concomitant skeletal dysplasia and a chromosome aberration. In particular, combinations of ACH and trisomy 21 have been reported [9,10]. ACH is a mild type of dysplasia in the group of FGFR3…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of Fetal Skeletal Dysplasia Using 3-Dimensional Computed Tomography: A Case Series

Waratani

Ito

Tanaka

et al. 2020

Preprint

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Background: Fetal skeletal dysplasia constitutes a complex group of systemic bone and cartilage disorders. Many fetal skeletal dysplasia phenotypes have indistinct definitions, making definitive prenatal diagnosis difficult. Fetal skeletal dysplasia is typically diagnosed using sonography; however, three-dimensional computed tomography (3D-CT) also aids in making a prenatal diagnosis. This study aimed to examine the efficacy of 3D-CT for the prenatal diagnosis of fetal skeletal dysplasia by comparing the diagnostic accuracy of fetal sonography and 3D-CT.Methods: Based on the suspicion of skeletal dysplasia based on ultrasound examination, we performed 3D-CT prenatally to confirm this diagnosis. In order to minimize exposure of the fetuses to radiation without compromising image quality, we used predetermined 3D-CT settings for volume acquisition.Results: Sixteen fetuses were suspected to have fetal skeletal dysplasia based on ultrasonography findings. Of these, 15 were diagnosed with fetal skeletal dysplasia using 3D-CT. All 15 fetuses diagnosed with fetal skeletal dysplasia prenatally were confirmed postnatally to have fetal skeletal dysplasia. The definitive postnatal diagnosis (campomelic dysplasia) differed from the prenatal diagnosis (osteogenesis imperfecta) in only one infant. 14 cases (93.3%) were diagnosed by an accyrate classification. Five infants had lethal skeletal dysplasia; one died in utero, and four died as neonates. We determined the appropriate delivery method for each infant based on the prenatal diagnosis.Conclusion: 3D-CT is a valuable tool to augment ultrasound examination for the diagnosis of skeletal dysplasia because it can provide a more definitive diagnosis of the type of dysplasia, enabling better planning for resuscitation of the infant after birth.Trial registration: University Hospital Medical Information Network (UMIN) Center trial registration number is UMIN000034744. Registered 1 October, 2018 – Retrospectively registered, https://upload.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=Roooo39610.

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Co‐occurrence of achondroplasia and Down syndrome: Genotype/phenotype association

Abstract: The interaction of these two distinct genetic disorders in the same patient produces a phenotype typical of each syndrome with some overlapping signs. This case represents de novo origin of two disorders that both may be parental-age related.

Cited by 12 publications

References 13 publications

Association of achondroplasia with Down syndrome: Difficulty in prenatal diagnosis by sonographic and 3‐D helical computed tomographic analyses

Association of achondroplasia with Down syndrome: Difficulty in prenatal diagnosis by sonographic and 3‐D helical computed tomographic analyses

Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient

Prenatal Diagnosis of Fetal Skeletal Dysplasia Using 3-Dimensional Computed Tomography: A Case Series

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