A case of agnathia, tetramelia and diaphragmatic hernia at 18 weeks' gestation

Falcón, Orlando; Coterón, Javier; Ocon, L.; Zubiria, A.; García, J.A.

doi:10.1002/uog.1005

Cited by 5 publications

(4 citation statements)

References 11 publications

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“… 1 van Dooren et al 2003, 2 Johnson et al 2000, 3–11 Watt 1917, McCredie and Reid 1978, Brossard et al 1987, Cunniff et al 1993, Jelsema et al 1993, Pankau and Janig 1993, Bozner et al 1995, Marino et al 2002, 12,13 Czeizel and Losonci 1987, Genuardi et al 1994, 14–16 Gershoni‐Baruch et al 1990, Bird et al 1994, Devriendt et al 1999, 17 Holmes et al 1995, 18–21 Kunze et al 1979, Patel et al 1997, Han et al 2000, Van Allen and Myhre 1991, 22 Lipson et al 1993, 23–28 Frias and Felman 1974, McCredie and Reid 1978, Gugliantini et al 1984, Bamforth et al 1992, St Charles et al 1993, Hou and Wang 1999, 29–31 Poidevin 1953, Gouw et al 1985, Barr 1987, 32 Evans et al 1993, 33 Reid and Huff 1990, 34 Uygur et al 2004, 35 Halal et al 1980, 36 Ullrich and Bohm 1977, 37 St Charles et al 1993, 38–40 Lerone et al 1992, Froster et al 1996, Wallerstein et al 1997, 41–53 Schulz and Niemann 1971, Holzgreve et al 1984, Stanley et al 1984, Schinzel 1990, Rodriguez et al 1992, Czeizel et al 1994, Saal and Bulas 1995, Pivnick et al 1998, Heinonen 1999, Herman and Siegel 2001, Youn and Toriello 2003, Falcon et al 2004, and Oner et al 2004. …”

Section: Resultsmentioning

confidence: 99%

Diaphragmatic defects and limb deficiencies—Taking sides

Evans¹

2007

American J of Med Genetics Pt A

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Diaphragmatic defects and limb deficiencies usually occur as independent anomalies, as a polytopic field defect (in which ipsilateral anomalies might be expected) or as wider pattern of defects, potentially involving disturbance of laterality or the midline (in which bilateral or contralateral defects would occur). Data on cases from previous studies and/or the literature were used to determine whether there is an association between the sides involved in the defects. The 88 adequately described cases identified included 20 with de Lange syndrome, seven with Poland anomaly, four with trisomy 18, 52 with other patterns of multiple malformations and five with diaphragmatic and limb defects alone. Evaluation of the position of the limb (left, right, bilateral) and the diaphragmatic defects (left, right, bilateral) did not show significant association in patterns of sidedness (P = 0.48). In 56% of cases, the limb deficiencies were bilateral. Among the 32 unilateral cases, 19 (59%) were ipsilateral (15 left; 4 right) and 13(41%) were contralateral (P = 0.38). Eleven of the 13 contralateral cases had left sided diaphragmatic defects and right sided limb deficiency; four had de Lange syndrome and nine had other patterns of multiple anomalies. Only cases with Poland anomaly or otherwise isolated defects showed a trend towards ipsilateral defects. Most cases with multiple congenital anomalies, had limbs defects on both the right and left (57%) or both sides of the diaphragm were affected (an additional 10%), indicating a widespread dysmorphogenetic process rather than a more restricted field defect. In other cases, defects were bilateral or, if unilateral, reflected the propensities for diaphragmatic defects to more often involve the left side, and limb defects, the right.

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Section: Resultsmentioning

confidence: 99%

Diaphragmatic defects and limb deficiencies—Taking sides

Evans¹

2007

American J of Med Genetics Pt A

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“…In contrast, the ultrasonographic evidence of an immobile trophoblast located atypically in the level of the cesarean scar and surrounded by rich blood flow in 3D power Doppler has to be taken as unmistakable sign of a viable CSEP. 36 Demonstration of embryonic heart action within the GS, rather common, given the excellent blood supply in vicinity of the uterine arteries, is additional proof. More differential diagnostic clues will be provided by 3D surface rendering of the uterus in the sagittal axis: the ballooning of the cervix, as typically seen in a cervical pregnancy (see section "cervical pregnancy"), is absent in CSEP.…”

Section: Abdominal Ectopic Pregnancymentioning

confidence: 97%

“…The ballooned cervix contains the trophoblast, clearly located below a constricted isthmus. 36 With color/power Doppler mode added, atypically intense blood flow in the cervical area around the trophoblast can be demonstrated 37 (Fig. 18).…”

Section: Cesarean Scar Ectopic Pregnancymentioning

confidence: 99%

Three-dimensional Ultrasound Imaging in the Diagnosis of Ectopic Pregnancy

Honemeyer¹

2018

Donald School Journal of Ultrasound in Obstetrics and Gynecology

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Morbidity and mortality of ectopic pregnancy (EP) have been drastically reduced since the first successful surgical removal of a fallopian tube EP in 1884 by Tait. Diagnosis and treatment were revolutionized by the introduction of quantitative serum beta hCG essay, high frequency transvaginal ultrasound (TVS), laparoscopic surgery, and interventional radiology with uterine artery embolization (UAE). In this paper, the focus will be on TVS diagnosis of EP in various locations. With two-dimensional (2D) color Doppler TVS having established itself as state-of-the-art diagnostic tool for EP, it will be discussed whether the additional use of 3-dimensional (3D) TVS facilitates the diagnosis of EP.

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“…Respiratory failure was cited as the cause of death for those who died within days to weeks. Tracheostomy tubes were placed in four of the 23 infants that died within neonatal period (Akiyama et al, 2013;Baker et al, 2004;Black et al, 1973;Brown & Marsh, 1990;Dao et al, 1988;Dasouki et al, 2013;Diep et al, 2016;Erlich et al, 2000;Falcon et al, 2004;Faye-Peterson et al, 2006;Golinko et al, 2015;Herman et al, 2012;Hisaba et al, 2014;Jagtap et al, 2015;Johnson & Cook, 1961;Kajiwara et al, 2016;Kamiji et al, 1991;Khan et al, 2008;O'Neill et al, 2003;Pauli et al, 1981;Peiffer et al, 1992;Schiffer et al, 2002;Schmotzer & Shehata, 2008;Scholl, 1977;Shermak & Dufresne, 1996;Stoler & Holmes, 1992;Tantbirojn et al, 2008;Tsai et al, 1999;Ursell, 1972;Walker et al, 1995;Woon & Tan, 1979;Yang et al, 2003).…”

Section: Clinical Presentation and Literature Reviewmentioning

confidence: 99%

A case of rare isolated agnathia and literature review

Alexander

Chandy

Barton

et al. 2020

American J of Med Genetics Pt A

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Agnathia is a rare congenital malformation with unknown etiology characterized by absence of the mandible, microstomia, and tongue aplasia, often found to have other anomalies including holoprosencephaly. The purpose of this paper was to describe the symptoms and imaging of a case of isolated agnathia and to conduct a comprehensive literature review of reported patients with isolated agnathia. Case reports of isolated agnathia are very rare, with most infants as stillborn. We report a child's management of isolated agnathia with microstomia and tongue aplasia. A literature review was performed with focus on diagnosis, airway, and feeding management of isolated agnathia. Polyhydramnios was a common pregnancy complication reported in 25 out of the 39 patients in the case study. Five infants were stillborn, while 23 died within the neonatal period. Of the deceased infants within the neonatal period, 19 died within minutes to hours while four died within days to weeks. There are nine patients with agnathia that survived past infancy. The results of this study suggest that isolated agnathia is a rare malformation which requires a multi‐disciplinary approach for airway and feeding management.

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A case of agnathia, tetramelia and diaphragmatic hernia at 18 weeks' gestation

Cited by 5 publications

References 11 publications

Diaphragmatic defects and limb deficiencies—Taking sides

Diaphragmatic defects and limb deficiencies—Taking sides

Three-dimensional Ultrasound Imaging in the Diagnosis of Ectopic Pregnancy

A case of rare isolated agnathia and literature review

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