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Abnormality of prenatal development or birth

MedGen UID:
871309
Concept ID:
C4025797
Finding
HPO: HP:0001197

Definition

An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Abnormality of prenatal development or birth

Conditions with this feature

Kohlschutter-Tonz syndrome-like
MedGen UID:
1781649
Concept ID:
C5543202
Disease or Syndrome
Den Hoed-de Boer-Voisin syndrome (DHDBV) is characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills. Although the severity of the disorder varies, many patients are nonverbal and have hypotonia with inability to sit or walk. Early-onset epilepsy is common and may be refractory to treatment, leading to epileptic encephalopathy and further interruption of developmental progress. Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. The phenotype is reminiscent of Kohlschutter-Tonz syndrome (KTZS; 226750). More variable features of DHDBV include visual defects, behavioral abnormalities, and nonspecific involvement of other organ systems (summary by den Hoed et al., 2021).

Professional guidelines

PubMed

Succoio M, Sacchettini R, Rossi A, Parenti G, Ruoppolo M
Biomolecules 2022 Jul 11;12(7) doi: 10.3390/biom12070968. PMID: 35883524Free PMC Article
Wolraich ML, Hagan JF Jr, Allan C, Chan E, Davison D, Earls M, Evans SW, Flinn SK, Froehlich T, Frost J, Holbrook JR, Lehmann CU, Lessin HR, Okechukwu K, Pierce KL, Winner JD, Zurhellen W; SUBCOMMITTEE ON CHILDREN AND ADOLESCENTS WITH ATTENTION-DEFICIT/HYPERACTIVE DISORDER
Pediatrics 2019 Oct;144(4) doi: 10.1542/peds.2019-2528. PMID: 31570648Free PMC Article
American College of Obstetricians and Gynecologists’ Committee on Practice Bulletins—Obstetrics
Obstet Gynecol 2016 Oct;128(4):e155-64. doi: 10.1097/AOG.0000000000001711. PMID: 27661654

Recent clinical studies

Etiology

Lang G, Farnell EA 4th, Quinlan JD
Am Fam Physician 2021 Jun 1;103(11):672-679. PMID: 34060788
Smith V, Gallagher L, Carroll M, Hannon K, Begley C
PLoS One 2019;14(10):e0224313. Epub 2019 Oct 24 doi: 10.1371/journal.pone.0224313. PMID: 31648289Free PMC Article
Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER; Prenatal Assessment of Genomes and Exomes Consortium
Lancet 2019 Feb 23;393(10173):747-757. Epub 2019 Jan 31 doi: 10.1016/S0140-6736(18)31940-8. PMID: 30712880Free PMC Article
Rauen KA
Annu Rev Genomics Hum Genet 2013;14:355-69. Epub 2013 Jul 15 doi: 10.1146/annurev-genom-091212-153523. PMID: 23875798Free PMC Article
Grimbizis GF, Gordts S, Di Spiezio Sardo A, Brucker S, De Angelis C, Gergolet M, Li TC, Tanos V, Brölmann H, Gianaroli L, Campo R
Hum Reprod 2013 Aug;28(8):2032-44. Epub 2013 Jun 14 doi: 10.1093/humrep/det098. PMID: 23771171Free PMC Article

Diagnosis

King SK, Levitt MA
Clin Perinatol 2022 Dec;49(4):965-979. Epub 2022 Oct 9 doi: 10.1016/j.clp.2022.08.002. PMID: 36328611
Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER; Prenatal Assessment of Genomes and Exomes Consortium
Lancet 2019 Feb 23;393(10173):747-757. Epub 2019 Jan 31 doi: 10.1016/S0140-6736(18)31940-8. PMID: 30712880Free PMC Article
Papamichail M, Pizanias M, Heaton N
Eur J Pediatr 2018 Mar;177(3):285-294. Epub 2017 Dec 14 doi: 10.1007/s00431-017-3058-x. PMID: 29243189Free PMC Article
Edwards L, Hui L
Semin Fetal Neonatal Med 2018 Apr;23(2):102-111. Epub 2017 Dec 9 doi: 10.1016/j.siny.2017.11.005. PMID: 29233624
Grimbizis GF, Gordts S, Di Spiezio Sardo A, Brucker S, De Angelis C, Gergolet M, Li TC, Tanos V, Brölmann H, Gianaroli L, Campo R
Hum Reprod 2013 Aug;28(8):2032-44. Epub 2013 Jun 14 doi: 10.1093/humrep/det098. PMID: 23771171Free PMC Article

Therapy

Ghandali NY, Iravani M, Habibi A, Cheraghian B
BMC Pregnancy Childbirth 2021 Jul 2;21(1):480. doi: 10.1186/s12884-021-03922-2. PMID: 34215198Free PMC Article
Lang G, Farnell EA 4th, Quinlan JD
Am Fam Physician 2021 Jun 1;103(11):672-679. PMID: 34060788
Herlin MK, Petersen MB, Brännström M
Orphanet J Rare Dis 2020 Aug 20;15(1):214. doi: 10.1186/s13023-020-01491-9. PMID: 32819397Free PMC Article
Berta M, Lindgren H, Christensson K, Mekonnen S, Adefris M
BMC Pregnancy Childbirth 2019 Dec 4;19(1):466. doi: 10.1186/s12884-019-2620-0. PMID: 31801479Free PMC Article
Cluett ER, Burns E, Cuthbert A
Cochrane Database Syst Rev 2018 May 16;5(5):CD000111. doi: 10.1002/14651858.CD000111.pub4. PMID: 29768662Free PMC Article

Prognosis

Zaninovic N, Rosenwaks Z
Fertil Steril 2020 Nov;114(5):914-920. doi: 10.1016/j.fertnstert.2020.09.157. PMID: 33160513
Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER; Prenatal Assessment of Genomes and Exomes Consortium
Lancet 2019 Feb 23;393(10173):747-757. Epub 2019 Jan 31 doi: 10.1016/S0140-6736(18)31940-8. PMID: 30712880Free PMC Article
Edwards L, Hui L
Semin Fetal Neonatal Med 2018 Apr;23(2):102-111. Epub 2017 Dec 9 doi: 10.1016/j.siny.2017.11.005. PMID: 29233624
Leboulanger N, Garabédian EN
Orphanet J Rare Dis 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. PMID: 22151899Free PMC Article
Hammond E, Donnenfeld AE
Obstet Gynecol Surv 1995 Mar;50(3):240-9. doi: 10.1097/00006254-199503000-00028. PMID: 7739837

Clinical prediction guides

Karim JN, Bradburn E, Roberts N, Papageorghiou AT; ACCEPTS study
Ultrasound Obstet Gynecol 2022 Jan;59(1):11-25. doi: 10.1002/uog.23740. PMID: 34369613Free PMC Article
Lang G, Farnell EA 4th, Quinlan JD
Am Fam Physician 2021 Jun 1;103(11):672-679. PMID: 34060788
Zaninovic N, Rosenwaks Z
Fertil Steril 2020 Nov;114(5):914-920. doi: 10.1016/j.fertnstert.2020.09.157. PMID: 33160513
Minnella GP, Crupano FM, Syngelaki A, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2020 May;55(5):637-644. doi: 10.1002/uog.21956. PMID: 31875326
Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER; Prenatal Assessment of Genomes and Exomes Consortium
Lancet 2019 Feb 23;393(10173):747-757. Epub 2019 Jan 31 doi: 10.1016/S0140-6736(18)31940-8. PMID: 30712880Free PMC Article

Recent systematic reviews

Domínguez-Solís E, Lima-Serrano M, Lima-Rodríguez JS
Midwifery 2021 Nov;102:103126. Epub 2021 Aug 14 doi: 10.1016/j.midw.2021.103126. PMID: 34464836
McKelvin G, Thomson G, Downe S
Women Birth 2021 Sep;34(5):407-416. Epub 2020 Oct 7 doi: 10.1016/j.wombi.2020.09.021. PMID: 33039281
Berta M, Lindgren H, Christensson K, Mekonnen S, Adefris M
BMC Pregnancy Childbirth 2019 Dec 4;19(1):466. doi: 10.1186/s12884-019-2620-0. PMID: 31801479Free PMC Article
Nilsson C, Hessman E, Sjöblom H, Dencker A, Jangsten E, Mollberg M, Patel H, Sparud-Lundin C, Wigert H, Begley C
BMC Pregnancy Childbirth 2018 Jan 12;18(1):28. doi: 10.1186/s12884-018-1659-7. PMID: 29329526Free PMC Article
Yildiz PD, Ayers S, Phillips L
J Affect Disord 2017 Jan 15;208:634-645. Epub 2016 Oct 27 doi: 10.1016/j.jad.2016.10.009. PMID: 27865585

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