2021
DOI: 10.1093/labmed/lmaa116
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Achondroplasia—First Report from India of a Rare FGFR3 Gene Variant

Abstract: The clinical manifestations of FGFR3 sequence variations can vary from mild unnoticed short stature to neonatal lethal dwarfism and can be causative of phenotypes including achondroplasia, hypochondroplasia, and thanatophoric dysplasia. Clinical data describe an 11 month old girl with restricted growth and preserved intellect. She had rhizomelic short stature with peculiar facies but no Acanthosis nigricans. In view of the absence of the hotspot mutation c.1138 G>A/G>C (p.Gly380Arg), complete gen… Show more

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Cited by 3 publications
(2 citation statements)
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“…There are 378 entries in the Online Mendelian Inheritance in Man (OMIM) database including the FGR phenotype associated with a wide range of genetic syndromes with autosomal recessive, autosomal dominant, X-linked recessive, X-linked dominant, or multifactorial inheritance patterns. The most commonly reported syndromes related to FGR include Silver-Russell syndrome ( CDKN1C ), Noonan syndrome ( PTPN11 and SOS1 ), achondroplasia ( FGFR3 ), Meier-Gorlin syndrome ( ORCs and CDC ), and 3 M syndrome ( CUL7 , OBSL1 , and CCDC8 ) 18–22 …”
Section: Fetal Genetic Etiologies Of Fgrmentioning
confidence: 99%
See 1 more Smart Citation
“…There are 378 entries in the Online Mendelian Inheritance in Man (OMIM) database including the FGR phenotype associated with a wide range of genetic syndromes with autosomal recessive, autosomal dominant, X-linked recessive, X-linked dominant, or multifactorial inheritance patterns. The most commonly reported syndromes related to FGR include Silver-Russell syndrome ( CDKN1C ), Noonan syndrome ( PTPN11 and SOS1 ), achondroplasia ( FGFR3 ), Meier-Gorlin syndrome ( ORCs and CDC ), and 3 M syndrome ( CUL7 , OBSL1 , and CCDC8 ) 18–22 …”
Section: Fetal Genetic Etiologies Of Fgrmentioning
confidence: 99%
“…The most commonly reported syndromes related to FGR include Silver-Russell syndrome (CDKN1C), Noonan syndrome (PTPN11 and SOS1), achondroplasia (FGFR3), Meier-Gorlin syndrome (ORCs and CDC), and 3 M syndrome (CUL7, OBSL1, and CCDC8). [18][19][20][21][22] With the application of next-generation sequencing (NGS) in prenatal diagnosis, it is possible to identify underlying single-gene disorders in fetuses with FGR. There are few studies focused on the incidence of monogenic disease or the incremental yield of the exome sequencing (ES) in FGR cases.…”
Section: Fetal Chromosomal Abnormalitiesmentioning
confidence: 99%