Antenatal Ultrasonographic Diagnosis of a Constellation of Alobar Holoprosencephaly, Ethmocephaly, and Hydronephrosis in a Case of Early-Onset Intrauterine Growth Retardation : A Case Report
Copyright © 2022, Ghanta et al..
Alobar holoprosencephaly is a congenital malformation that results from failure of the forebrain/prosencephalon to divide into right and left halves. Despite the literature on the genetic and chromosomal abnormalities associated with this condition, information on additional causes and explanations for variability in phenotypic expressivity are lacking. We report a case of early-onset intrauterine growth retardation with alobar holoprosencephaly, ethmocephaly, and hydronephrosis diagnosed on antenatal ultrasonography in a 27-year-old primigravida with no known risk factors or family history. The combination of holoprosencephaly with associated midline facial anomalies and the genitourinary abnormality, in this case, constitutes a rare phenotypic presentation. This case emphasizes the importance of antenatal ultrasonography in the early detection of lethal anomalies like alobar holoprosencephaly. The pregnancy was safely terminated in accordance with the mother's decision.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2022 |
|---|---|
| Erschienen: |
2022 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:14 |
|---|---|
| Enthalten in: |
Cureus - 14(2022), 7 vom: 25. Juli, Seite e27375 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Ghanta, Prasanthi R [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
Alobar holoprosencephaly |
|---|
| Anmerkungen: |
Date Revised 07.09.2022 published: Electronic-eCollection Citation Status PubMed-not-MEDLINE |
|---|
| doi: |
10.7759/cureus.27375 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM345636503 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM345636503 | ||
| 003 | DE-627 | ||
| 005 | 20231226025525.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231226s2022 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.7759/cureus.27375 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1152.xml |
| 035 | |a (DE-627)NLM345636503 | ||
| 035 | |a (NLM)36046320 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Ghanta, Prasanthi R |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Antenatal Ultrasonographic Diagnosis of a Constellation of Alobar Holoprosencephaly, Ethmocephaly, and Hydronephrosis in a Case of Early-Onset Intrauterine Growth Retardation |b A Case Report |
| 264 | 1 | |c 2022 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Revised 07.09.2022 | ||
| 500 | |a published: Electronic-eCollection | ||
| 500 | |a Citation Status PubMed-not-MEDLINE | ||
| 520 | |a Copyright © 2022, Ghanta et al. | ||
| 520 | |a Alobar holoprosencephaly is a congenital malformation that results from failure of the forebrain/prosencephalon to divide into right and left halves. Despite the literature on the genetic and chromosomal abnormalities associated with this condition, information on additional causes and explanations for variability in phenotypic expressivity are lacking. We report a case of early-onset intrauterine growth retardation with alobar holoprosencephaly, ethmocephaly, and hydronephrosis diagnosed on antenatal ultrasonography in a 27-year-old primigravida with no known risk factors or family history. The combination of holoprosencephaly with associated midline facial anomalies and the genitourinary abnormality, in this case, constitutes a rare phenotypic presentation. This case emphasizes the importance of antenatal ultrasonography in the early detection of lethal anomalies like alobar holoprosencephaly. The pregnancy was safely terminated in accordance with the mother's decision | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a alobar holoprosencephaly | |
| 650 | 4 | |a ethmocephaly | |
| 650 | 4 | |a hydronephrosis | |
| 650 | 4 | |a intrauterine growth retardation | |
| 650 | 4 | |a ultrasonography | |
| 700 | 1 | |a Phatak, Suresh |e verfasserin |4 aut | |
| 700 | 1 | |a Bhansali, Pratik J |e verfasserin |4 aut | |
| 700 | 1 | |a Unadkat, Bhavik S |e verfasserin |4 aut | |
| 700 | 1 | |a Goyal, Nidhi |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Cureus |d 2013 |g 14(2022), 7 vom: 25. Juli, Seite e27375 |w (DE-627)NLM24118083X |x 2168-8184 |7 nnns |
| 773 | 1 | 8 | |g volume:14 |g year:2022 |g number:7 |g day:25 |g month:07 |g pages:e27375 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.7759/cureus.27375 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 14 |j 2022 |e 7 |b 25 |c 07 |h e27375 | ||