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Echogenic fetal bowel

MedGen UID:
445312
Concept ID:
C2936423
Congenital Abnormality; Finding
Synonyms: Echogenic Bowel; Echogenic Bowels; Hyperechogenic Bowel; Hyperechogenic Bowels
 
HPO: HP:0010943

Definition

Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone. [from HPO]

Term Hierarchy

Conditions with this feature

Greenberg dysplasia
MedGen UID:
418969
Concept ID:
C2931048
Disease or Syndrome
Greenberg dysplasia (GRBGD), also known as hydrops-ectopic calcification-moth-eaten (HEM) skeletal dysplasia, is a rare autosomal recessive osteochondrodysplasia characterized by gross fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers. It is lethal in utero. Patient fibroblasts show increased levels of cholesta-8,14-dien-3-beta-ol, suggesting a defect of sterol metabolism (summary by Konstantinidou et al., 2008). Herman (2003) reviewed the cholesterol biosynthetic pathway and 6 disorders involving enzyme defects in postsqualene cholesterol biosynthesis: Smith-Lemli-Opitz syndrome (SLOS; 270400), desmosterolosis (602398), X-linked dominant chondrodysplasia punctata (CDPX2; 302960), CHILD syndrome (308050), lathosterolosis (607330), and HEM skeletal dysplasia.
Hyperphosphatasia with intellectual disability syndrome 6
MedGen UID:
906509
Concept ID:
C4225201
Disease or Syndrome
Hyperphosphatasia with impaired intellectual development syndrome-6 (HPMRS6) is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic features, seizures, and congenital cataracts. Severity is variable, and the disorder may show a range of phenotypic and biochemical abnormalities, including increased serum alkaline phosphatase levels (summary by Ilkovski et al., 2015). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (239300). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).
DEGCAGS syndrome
MedGen UID:
1794177
Concept ID:
C5561967
Disease or Syndrome
DEGCAGS syndrome is an autosomal recessive syndromic neurodevelopmental disorder characterized by global developmental delay, coarse and dysmorphic facial features, and poor growth and feeding apparent from infancy. Affected individuals have variable systemic manifestations often with significant structural defects of the cardiovascular, genitourinary, gastrointestinal, and/or skeletal systems. Additional features may include sensorineural hearing loss, hypotonia, anemia or pancytopenia, and immunodeficiency with recurrent infections. Death in childhood may occur (summary by Bertoli-Avella et al., 2021).
Neurodevelopmental disorder with hypotonia and dysmorphic facies
MedGen UID:
1794184
Concept ID:
C5561974
Disease or Syndrome
Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) is characterized by global developmental delay and hypotonia apparent from birth. Affected individuals have variably impaired intellectual development, often with speech delay and delayed walking. Seizures are generally not observed, although some patients may have single seizures or late-onset epilepsy. Most patients have prominent dysmorphic facial features. Additional features may include congenital cardiac defects (without arrhythmia), nonspecific renal anomalies, joint contractures or joint hyperextensibility, dry skin, and cryptorchidism. There is significant phenotypic variability in both the neurologic and extraneurologic manifestations (summary by Tan et al., 2022).
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome
MedGen UID:
1824056
Concept ID:
C5774283
Disease or Syndrome
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH) is an autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities. Additional features may include developmental delay, impaired intellectual development, and growth failure/retardation (summary by Cuvertino et al., 2020 and Baldridge et al., 2020).

Professional guidelines

PubMed

Vena F, Mazza A, Bartolone M, Vasta A, D'Alberti E, Di Mascio D, D'Ambrosio V, Volpe G, Signore F, Pizzuti A, Giancotti A
J Clin Ultrasound 2023 Sep;51(7):1172-1178. Epub 2023 Aug 8 doi: 10.1002/jcu.23528. PMID: 37553773
Piñero-Fernández JA, Vicente-Calderón C, Lorente-Sánchez MJ, Juan-Fita MJ, Egea-Mellado JM, González-Gallego IC
Pediatr Nephrol 2023 May;38(5):1513-1521. Epub 2022 Oct 13 doi: 10.1007/s00467-022-05732-w. PMID: 36227436
Society for Maternal-Fetal Medicine (SMFM). Electronic address: pubs@smfm.org, Prabhu M, Kuller JA, Biggio JR
Am J Obstet Gynecol 2021 Oct;225(4):B2-B15. Epub 2021 Jun 23 doi: 10.1016/j.ajog.2021.06.079. PMID: 34171388

Recent clinical studies

Etiology

Vena F, Mazza A, Bartolone M, Vasta A, D'Alberti E, Di Mascio D, D'Ambrosio V, Volpe G, Signore F, Pizzuti A, Giancotti A
J Clin Ultrasound 2023 Sep;51(7):1172-1178. Epub 2023 Aug 8 doi: 10.1002/jcu.23528. PMID: 37553773
Jackson CR, Orford J, Minutillo C, Dickinson JE
Eur J Pediatr Surg 2010 May;20(3):191-3. Epub 2010 Feb 19 doi: 10.1055/s-0030-1247523. PMID: 20175047
Berlin BM, Norton ME, Sugarman EA, Tsipis JE, Allitto BA
Obstet Gynecol 1999 Jul;94(1):135-8. doi: 10.1016/s0029-7844(99)00286-0. PMID: 10389734
Sipes SL, Weiner CP, Wenstrom KD, Williamson RA, Grant SS, Mueller GM
Fetal Diagn Ther 1994 Jan-Feb;9(1):38-43. doi: 10.1159/000263905. PMID: 8142051
Nyberg DA, Dubinsky T, Resta RG, Mahony BS, Hickok DE, Luthy DA
Radiology 1993 Aug;188(2):527-31. doi: 10.1148/radiology.188.2.8327709. PMID: 8327709

Diagnosis

Vena F, Mazza A, Bartolone M, Vasta A, D'Alberti E, Di Mascio D, D'Ambrosio V, Volpe G, Signore F, Pizzuti A, Giancotti A
J Clin Ultrasound 2023 Sep;51(7):1172-1178. Epub 2023 Aug 8 doi: 10.1002/jcu.23528. PMID: 37553773
Tidrenczel Z, Tardy EP, Pikó H, Sarkadi E, Böjtös I, Demeter J, Simon J, Kósa JP, Beke A
Cytogenet Genome Res 2019;158(2):63-73. Epub 2019 Jul 2 doi: 10.1159/000500735. PMID: 31261151
Jackson CR, Orford J, Minutillo C, Dickinson JE
Eur J Pediatr Surg 2010 May;20(3):191-3. Epub 2010 Feb 19 doi: 10.1055/s-0030-1247523. PMID: 20175047
Berlin BM, Norton ME, Sugarman EA, Tsipis JE, Allitto BA
Obstet Gynecol 1999 Jul;94(1):135-8. doi: 10.1016/s0029-7844(99)00286-0. PMID: 10389734
Sipes SL, Weiner CP, Wenstrom KD, Williamson RA, Grant SS, Mueller GM
Fetal Diagn Ther 1994 Jan-Feb;9(1):38-43. doi: 10.1159/000263905. PMID: 8142051

Therapy

Harrison KL, Martinez D, Mason G
Ultrasound Obstet Gynecol 2000 Nov;16(6):524-9. doi: 10.1046/j.1469-0705.2000.00295.x. PMID: 11169345

Prognosis

Vena F, Mazza A, Bartolone M, Vasta A, D'Alberti E, Di Mascio D, D'Ambrosio V, Volpe G, Signore F, Pizzuti A, Giancotti A
J Clin Ultrasound 2023 Sep;51(7):1172-1178. Epub 2023 Aug 8 doi: 10.1002/jcu.23528. PMID: 37553773
Jackson CR, Orford J, Minutillo C, Dickinson JE
Eur J Pediatr Surg 2010 May;20(3):191-3. Epub 2010 Feb 19 doi: 10.1055/s-0030-1247523. PMID: 20175047
Wax JR, Cartin A, Pinette MG, Blackstone J
J Ultrasound Med 2005 Aug;24(8):1059-63. doi: 10.7863/jum.2005.24.8.1059. PMID: 16040819
Bosco AF, Norton ME, Lieberman E
Obstet Gynecol 1999 Dec;94(6):1020-3. doi: 10.1016/s0029-7844(99)00443-3. PMID: 10576193
Perez CG, Goldstein RB
Semin Ultrasound CT MR 1998 Aug;19(4):336-46. doi: 10.1016/s0887-2171(98)90091-9. PMID: 9718662

Clinical prediction guides

Vena F, Mazza A, Bartolone M, Vasta A, D'Alberti E, Di Mascio D, D'Ambrosio V, Volpe G, Signore F, Pizzuti A, Giancotti A
J Clin Ultrasound 2023 Sep;51(7):1172-1178. Epub 2023 Aug 8 doi: 10.1002/jcu.23528. PMID: 37553773
Tidrenczel Z, Tardy EP, Pikó H, Sarkadi E, Böjtös I, Demeter J, Simon J, Kósa JP, Beke A
Cytogenet Genome Res 2019;158(2):63-73. Epub 2019 Jul 2 doi: 10.1159/000500735. PMID: 31261151
Jackson CR, Orford J, Minutillo C, Dickinson JE
Eur J Pediatr Surg 2010 May;20(3):191-3. Epub 2010 Feb 19 doi: 10.1055/s-0030-1247523. PMID: 20175047
Harrison KL, Martinez D, Mason G
Ultrasound Obstet Gynecol 2000 Nov;16(6):524-9. doi: 10.1046/j.1469-0705.2000.00295.x. PMID: 11169345
Bosco AF, Norton ME, Lieberman E
Obstet Gynecol 1999 Dec;94(6):1020-3. doi: 10.1016/s0029-7844(99)00443-3. PMID: 10576193

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