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5-minute APGAR score of 1

MedGen UID:
1369112
Concept ID:
C4476851
Finding
HPO: HP:0030921

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV5-minute APGAR score of 1

Conditions with this feature

Thanatophoric dysplasia type 1
MedGen UID:
358383
Concept ID:
C1868678
Disease or Syndrome
Thanatophoric dysplasia (TD) is a short-limb skeletal dysplasia that is usually lethal in the perinatal period. TD is divided into subtypes: TD type I is characterized by micromelia with bowed femurs and, uncommonly, the presence of craniosynostosis of varying severity. TD type II is characterized by micromelia with straight femurs and uniform presence of moderate-to-severe craniosynostosis with cloverleaf skull deformity. Other features common to type I and type II include: short ribs, narrow thorax, relative macrocephaly, distinctive facial features, brachydactyly, hypotonia, and redundant skin folds along the limbs. Most affected infants die of respiratory insufficiency shortly after birth. Rare long-term survivors have been reported.

Professional guidelines

PubMed

Powel JE, Chavan NR, Zantow EW, Bialko MF, Farley LG, McCormick KM, Tomlinson TM
Am J Obstet Gynecol 2023 Oct;229(4):447.e1-447.e13. Epub 2023 Apr 30 doi: 10.1016/j.ajog.2023.04.037. PMID: 37767605
Mathur D, Morgan M, McKenzie J, Wakefield D, Janicki MB, Figueroa R
J Matern Fetal Neonatal Med 2022 Dec;35(25):8975-8981. Epub 2021 Nov 25 doi: 10.1080/14767058.2021.2008896. PMID: 34823422
Kohn JR, Rao V, Sellner AA, Sharhan D, Espinoza J, Shamshirsaz AA, Whitehead WE, Belfort MA, Sanz Cortes M
Obstet Gynecol 2018 Jun;131(6):1062-1068. doi: 10.1097/AOG.0000000000002577. PMID: 29742660

Recent clinical studies

Etiology

Hong J, Atkinson J, Roddy Mitchell A, Tong S, Walker SP, Middleton A, Lindquist A, Hastie R
JAMA Netw Open 2023 May 1;6(5):e2313162. doi: 10.1001/jamanetworkopen.2023.13162. PMID: 37171818Free PMC Article
Chen HY, Chauhan SP
J Matern Fetal Neonatal Med 2022 Dec;35(25):7109-7118. Epub 2021 Jun 24 doi: 10.1080/14767058.2021.1943659. PMID: 34167421
Chen HY, Blackwell SC, Chauhan SP
J Matern Fetal Neonatal Med 2022 Apr;35(7):1344-1351. Epub 2020 Apr 16 doi: 10.1080/14767058.2020.1754789. PMID: 32299290
Cnattingius S, Johansson S, Razaz N
N Engl J Med 2020 Jul 2;383(1):49-57. doi: 10.1056/NEJMoa1915075. PMID: 32609981
Gardener H, Spiegelman D, Buka SL
Pediatrics 2011 Aug;128(2):344-55. Epub 2011 Jul 11 doi: 10.1542/peds.2010-1036. PMID: 21746727Free PMC Article

Diagnosis

Tang W, Zhou LJ, Zhang WQ, Jia YJ, Hu FH, Chen HL
Schizophr Res 2023 Dec;262:156-167. Epub 2023 Nov 16 doi: 10.1016/j.schres.2023.11.001. PMID: 37979419
Onishi K, Huang JC, Kawakita T
Am J Obstet Gynecol MFM 2023 Apr;5(4):100858. Epub 2022 Dec 31 doi: 10.1016/j.ajogmf.2022.100858. PMID: 36592821
Mathur D, Morgan M, McKenzie J, Wakefield D, Janicki MB, Figueroa R
J Matern Fetal Neonatal Med 2022 Dec;35(25):8975-8981. Epub 2021 Nov 25 doi: 10.1080/14767058.2021.2008896. PMID: 34823422
Osredkar D, Verdenik I, Gergeli AT, Gersak K, Lucovnik M
Neuropediatrics 2021 Aug;52(4):310-315. Epub 2021 Jun 23 doi: 10.1055/s-0041-1729181. PMID: 34162009
Smith C, Teng F, Branch E, Chu S, Joseph KS
Obstet Gynecol 2019 Dec;134(6):1234-1244. doi: 10.1097/AOG.0000000000003557. PMID: 31764734Free PMC Article

Therapy

Hong J, Atkinson J, Roddy Mitchell A, Tong S, Walker SP, Middleton A, Lindquist A, Hastie R
JAMA Netw Open 2023 May 1;6(5):e2313162. doi: 10.1001/jamanetworkopen.2023.13162. PMID: 37171818Free PMC Article
Tita ATN, Doherty L, Grobman WA, Reddy UM, Silver RM, Mallett G, Rice MM, El-Sayed YY, Wapner RJ, Rouse DJ, Saade GR, Thorp JM Jr, Chauhan SP, Costantine MM, Chien EK, Casey BM, Srinivas SK, Swamy GK, Simhan HN, Macones GA; for the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Maternal-Fetal Medicine Units (MFMU) Network
Obstet Gynecol 2021 Feb 1;137(2):250-257. doi: 10.1097/AOG.0000000000004230. PMID: 33416294Free PMC Article
Gönenç IM, Terzioğlu F
J Nurs Res 2020 Feb;28(1):e68. doi: 10.1097/jnr.0000000000000344. PMID: 31524645
Gardener H, Spiegelman D, Buka SL
Pediatrics 2011 Aug;128(2):344-55. Epub 2011 Jul 11 doi: 10.1542/peds.2010-1036. PMID: 21746727Free PMC Article
Rowan JA, Hague WM, Gao W, Battin MR, Moore MP; MiG Trial Investigators
N Engl J Med 2008 May 8;358(19):2003-15. doi: 10.1056/NEJMoa0707193. PMID: 18463376

Prognosis

Onishi K, Huang JC, Kawakita T
Am J Obstet Gynecol MFM 2023 Apr;5(4):100858. Epub 2022 Dec 31 doi: 10.1016/j.ajogmf.2022.100858. PMID: 36592821
Chen HY, Chauhan SP
J Matern Fetal Neonatal Med 2022 Dec;35(25):7109-7118. Epub 2021 Jun 24 doi: 10.1080/14767058.2021.1943659. PMID: 34167421
Chen HY, Blackwell SC, Chauhan SP
J Matern Fetal Neonatal Med 2022 Apr;35(7):1344-1351. Epub 2020 Apr 16 doi: 10.1080/14767058.2020.1754789. PMID: 32299290
Cnattingius S, Johansson S, Razaz N
N Engl J Med 2020 Jul 2;383(1):49-57. doi: 10.1056/NEJMoa1915075. PMID: 32609981
Smith C, Teng F, Branch E, Chu S, Joseph KS
Obstet Gynecol 2019 Dec;134(6):1234-1244. doi: 10.1097/AOG.0000000000003557. PMID: 31764734Free PMC Article

Clinical prediction guides

Hong J, Atkinson J, Roddy Mitchell A, Tong S, Walker SP, Middleton A, Lindquist A, Hastie R
JAMA Netw Open 2023 May 1;6(5):e2313162. doi: 10.1001/jamanetworkopen.2023.13162. PMID: 37171818Free PMC Article
Selvaratnam RJ, Wallace EM, Davis PG, Rolnik DL, Fahey M, Davey MA
Acta Paediatr 2022 Oct;111(10):1878-1884. Epub 2022 Jun 14 doi: 10.1111/apa.16443. PMID: 35665536
Chen HY, Chauhan SP
J Matern Fetal Neonatal Med 2022 Dec;35(25):7109-7118. Epub 2021 Jun 24 doi: 10.1080/14767058.2021.1943659. PMID: 34167421
Cnattingius S, Johansson S, Razaz N
N Engl J Med 2020 Jul 2;383(1):49-57. doi: 10.1056/NEJMoa1915075. PMID: 32609981
Gardener H, Spiegelman D, Buka SL
Pediatrics 2011 Aug;128(2):344-55. Epub 2011 Jul 11 doi: 10.1542/peds.2010-1036. PMID: 21746727Free PMC Article

Recent systematic reviews

Hong J, Atkinson J, Roddy Mitchell A, Tong S, Walker SP, Middleton A, Lindquist A, Hastie R
JAMA Netw Open 2023 May 1;6(5):e2313162. doi: 10.1001/jamanetworkopen.2023.13162. PMID: 37171818Free PMC Article
Siargkas A, Tsakiridis I, Pachi C, Mamopoulos A, Athanasiadis A, Dagklis T
Am J Obstet Gynecol MFM 2023 Apr;5(4):100876. Epub 2023 Jan 26 doi: 10.1016/j.ajogmf.2023.100876. PMID: 36708965
Siargkas A, Tsakiridis I, Pachi C, Mamopoulos A, Athanasiadis A, Dagklis T
Am J Obstet Gynecol MFM 2023 Feb;5(2):100812. Epub 2022 Nov 12 doi: 10.1016/j.ajogmf.2022.100812. PMID: 36379439
Vahanian SA, Lavery JA, Ananth CV, Vintzileos A
Am J Obstet Gynecol 2015 Oct;213(4 Suppl):S78-90. doi: 10.1016/j.ajog.2015.05.058. PMID: 26428506
Tolcher MC, Johnson RL, El-Nashar SA, West CP
Obstet Gynecol 2014 Mar;123(3):536-548. doi: 10.1097/AOG.0000000000000132. PMID: 24499762

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