PMID- 38421226
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20240301
LR  - 20240306
IS  - 2463-0225 (Electronic)
IS  - 0034-7434 (Print)
IS  - 0034-7434 (Linking)
VI  - 74
IP  - 4
DP  - 2023 Dec 30
TI  - Prenatal diagnosis of Freeman-Sheldon syndrome using ultrasound and genetic 
      testing. Case report.
PG  - 310-316
LID - 10.18597/rcog.4019 [doi]
AB  - OBJECTIVES: To describe a case of prenatal diagnosis of Freeman-Sheldon syndrome 
      based on ultrasound findings and complete fetal exome sequencing. MATERIALS AND 
      METHODS: A 33-year-old patient currently on treatment for hypothyroidism in whom 
      a 19-week detailed anatomical ultrasound scan showed fetal deformities in more 
      than two body areas (upper and lower limbs), suggesting a diagnosis of 
      arthrogryposis. Genetic counseling was provided and amniocentesis was performed 
      at 20 weeks for fluorescence in situ hybridization (FISH) analysis and complete 
      fetal exome sequencing, with the latter allowing the identification of a 
      heterozygous pathogenic variant of the MYH3 gene which is associated with type 2A 
      distal arthrogryposis. CONCLUSIONS: Complete fetal exome sequencing was a key 
      factor in identifying the MYH3 gene mutation and confirmed that the deformities 
      seen on ultrasound were associated with type 2A distal arthrogryposis. It is 
      important to perform complete fetal exome sequencing in cases of joint 
      malformations seen on prenatal ultrasound.
FAU - Annicchiarico-Lopez, Walter
AU  - Annicchiarico-Lopez W
AUID- ORCID: 0000-0001-8141-2362
AD  - Universidad de Cartagena, Cartagena de Indias (Colombia). . 
      wanichiarico@gmail.com.
FAU - Pena-Pardo, Leidy Ximena
AU  - Pena-Pardo LX
AUID- ORCID: 0009-0004-6282-5080
AD  - Clinica de la Mujer Cartagena S.A.S., Cartagena de Indias (Colombia).. 
      ximenapardo2716@gmail.com.
FAU - Miranda-Quintero, Jezid Enrique
AU  - Miranda-Quintero JE
AUID- ORCID: 0000-0003-0372-8374
AD  - Centro Hospitalario Serena del Mar, Cartagena de Indias (Colombia).. 
      jmirandaq@unicartagena.edu.co.
LA  - eng
LA  - spa
PT  - English Abstract
PT  - Journal Article
TT  - Diagnostico prenatal, sindrome Freeman-Sheldon mediante ultrasonido y estudio 
      genetico. Reporte de caso.
DEP - 20231230
PL  - Colombia
TA  - Rev Colomb Obstet Ginecol
JT  - Revista colombiana de obstetricia y ginecologia
JID - 0404263
SB  - IM
PMC - PMC10911420
OAB - OBJECTIVES: To describe a case of prenatal diagnosis of Freeman-Sheldon syndrome 
      based on ultrasound findings and complete fetal exome sequencing. MATERIALS AND 
      METHODS: A 33-year-old woman currently on treatment for hypothyroidism in whom a 
      19-week detailed anatomical ultrasound scan showed fetal deformities in more than 
      two body areas (upper and lower limbs), suggesting a diagnosis of arthrogryposis. 
      Genetic counseling was provided and amniocentesis was performed at 20 weeks for 
      fluorescence in situ hybridization (FISH) analysis and complete fetal exome 
      sequencing, with the latter allowing the identification of a heterozygous 
      pathogenic variant of the MYH3 gene which is associated with type 2A distal 
      arthrogryposis. CONCLUSIONS: Complete fetal exome sequencing was a key factor in 
      identifying the MYH3 gene mutation and confirmed that the deformities seen on 
      ultrasound were associated with type 2A distal arthrogryposis. It is important to 
      perform complete fetal exome sequencing in cases of joint malformations seen on 
      prenatal ultrasound.
OABL- eng
OTO - NOTNLM
OT  - Arthrogryposis
OT  - club foot
OT  - exome
OT  - syndrome
OT  - prenatal diagnosis
COIS- Conflicto de intereses: los autores declaran no tener ningun conflicto de 
      intereses.
EDAT- 2024/02/29 12:46
MHDA- 2024/03/01 06:43
PMCR- 2023/12/30
CRDT- 2024/02/29 09:23
PHST- 2023/03/20 00:00 [received]
PHST- 2023/12/04 00:00 [accepted]
PHST- 2024/03/01 06:43 [medline]
PHST- 2024/02/29 12:46 [pubmed]
PHST- 2024/02/29 09:23 [entrez]
PHST- 2023/12/30 00:00 [pmc-release]
AID - 10.18597/rcog.4019 [doi]
PST - epublish
SO  - Rev Colomb Obstet Ginecol. 2023 Dec 30;74(4):310-316. doi: 10.18597/rcog.4019.