Familial occurrence of malformations possibly attributable to vascular abnormalities

Soltan, Hubert C.; Holmes, Lewis B.

doi:10.1016/s0022-3476(86)80783-1

Cited by 73 publications

(32 citation statements)

References 8 publications

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“…A disruption of a previously formed fetal tissue due to a vascular accident is the pathogenic model proposed by Hoyme et al [17] to explain structural defects in monozygotic twins, limb defects [18], abdom inal defects [19], and facial microsia [20]. This proposed mechanism of a perfusion de fect due to embolism, spasm or hypoperfusion during a critical period of relatively little col lateral perfusion for a given structure is sup ported by the findings of others [3,21,22], That cocaine can disrupt the perfusion to viral organs is unquestionably associated with much of its potential for devastation to its users. The hemodynamic effects of cocaine include its potent vasoconstrictive action, its enhanced norepinephrine-mediated tachycar dia, hypertension and ventricular arrhythmia potential.…”

Section: Discussionmentioning

confidence: 96%

Ultrasound Diagnosis of Fetal Anomalies Associated with in utero Cocaine Exposure: Further Support for Cocaine-Induced Vascular Disruption Teratogenesis

Hume

Gingras²,

Martin³

et al. 1994

Fetal Diagn Ther

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The dramatic increase in cocaine use over the past decade has led to a concern about its possible teratogenicity. We have identified 6 structural fetal anomalies which we postulate may have cocaine-induced vascular accidents as the teratogenic mechanism: 2 complex choriod plexus cysts, gastroschisis, meconium peritonitis, urethral stenosis, and radial hypoplasia. Two additional anomalous neonates were born to perinatal cocaine users. Eight of 51 (15.7%) cocaine-exposed perinates exhibited anomalies versus 120 of 2,194 (5.4%) perinates without known cocaine exposure during this time period. This represents a 3-fold relative risk (RR = 2.87, OR = 3.22, chi square = 9.68, p < 0.005) for the cocaine-exposed fetus. Subjects were all identified as cocaine users prior to ultrasound-detected anomaly and ultrasonologists were blinded to maternal drug history. The vascular disruption model as the plausible mechanism for cocaine-associated teratogenesis is supported by the type of anomalies reported. In addition, cocaine use was prospectively determined to have occurred at the critical developmental period in each case.

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Section: Discussionmentioning

confidence: 96%

Ultrasound Diagnosis of Fetal Anomalies Associated with in utero Cocaine Exposure: Further Support for Cocaine-Induced Vascular Disruption Teratogenesis

Hume

Gingras²,

Martin³

et al. 1994

Fetal Diagn Ther

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“…7 Exact etiology remains unclear but genetic causes and vascular changes like fetal hemorrhage in the region of first and second arches at the time when the blood supply switches from stapedial artery to external carotid artery were suggested. 11 Disturbance in neural crest development, maternal diabetes, rubella and influenza have also been implicated. 3,9 In the present case also the etiology seemed unclear.…”

Section: Discussionmentioning

confidence: 99%

Oral Rehabilitation of a Child with Goldenhar syndrome

Jogendra¹,

Bandi²,

Akkla³

et al. 2015

JYP

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“…Animal studies showed that deficiencies of genes in the endothelin pathway in mice exhibited the same clinical features of OAVS. Although concordance has been reported for both monozygotic and dizygotic twins, the high level of discordance in monozygotic twins suggests that both genetic and environmental factors are involved [11,[17][18][19][20][21][22][23] . Currently, there is no specific causing gene that can be tested [24] .…”

Section: Discussionmentioning

confidence: 99%

Hemifacial Microsomia with Spinal and Rib Anomalies: Prenatal Diagnosis and Postmortem Confirmation Using 3-D Computed Tomography Reconstruction

Haratz

Vinkler²,

Lev³

et al. 2011

Fetal Diagn Ther

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Hemifacial microsomia (OMIM164210) is a condition featuring unilateral ear anomalies and ocular epibulbar dermoids associated with unilateral underdevelopment of the craniofacial bony structures. Other associated anomalies have also been described, especially spinal malformations, and the term oculoauriculovertebral dysplasia spectrum (OVAS) was suggested to include the three predominant systems involved. Both genetic and environmental causes are implied in the pathogenesis of the syndrome, with a 3% recurrence rate according to reports of both vertical transmission and affected siblings. No specific gene was identified, albeit mutations in chromosome 10 and deficiencies of genes in the endothelin pathway in mice exhibited the same clinical features. We hereby describe the first case of prenatal diagnosis of spinal and rib malformations associated to hemifacial microsomia by means of 2-D and 3-D ultrasound in a 23-week fetus. The sonographic study depicted fetal scoliosis due to the presence of hemivertebrae, Sprengel’s deformity of the left shoulder, ribs fusion, asymmetric ears with unilateral microtia, mandible unilateral hypoplasia as well as single umbilical artery and a ‘golf ball’ sign in the left ventricle of the heart. The diagnosis of OVAS was suggested and the family received proper genetic consultation. After termination of the pregnancy, the syndrome was confirmed by postmortem 3-D computed tomography study. In view of the grim outcome, prenatal death rate and high mortality and morbidity when three or more systems are involved, prenatal diagnosis and appropriate counseling are warranted.

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Familial occurrence of malformations possibly attributable to vascular abnormalities

Cited by 73 publications

References 8 publications

Ultrasound Diagnosis of Fetal Anomalies Associated with in utero Cocaine Exposure: Further Support for Cocaine-Induced Vascular Disruption Teratogenesis

Ultrasound Diagnosis of Fetal Anomalies Associated with in utero Cocaine Exposure: Further Support for Cocaine-Induced Vascular Disruption Teratogenesis

Oral Rehabilitation of a Child with Goldenhar syndrome

Hemifacial Microsomia with Spinal and Rib Anomalies: Prenatal Diagnosis and Postmortem Confirmation Using 3-D Computed Tomography Reconstruction

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