Prenatal diagnosis of VACTERL syndrome and partial caudal regression syndrome: A previously unreported association

Department of Obstetrics and Gynecology, Perinatology Unit, Istanbul Bakirkoy Maternity and Children Diseases Hospital, Istanbul, Turkey.
Journal of Clinical Ultrasound (Impact Factor: 0.69). 10/2009; 37(8):464-6. DOI: 10.1002/jcu.20590
Source: PubMed


We describe a case of VACTERL syndrome associated with type 1 unilateral caudal regression syndrome. The abnormal sonographic findings at 26 weeks included hemivertebrae, scoliosis, hypoplastic and deformed lumbar spine and sacrum, preaxial polydactyly on the left hand, duplicated hallux on the left foot and hemihypoplasia of the left lower limb, bilateral club foot, and single umbilical artery. Postmortem examination confirmed prenatal sonographic findings with additional findings of supernumerary rib at the lumbar level and anal atresia.

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Available from: Gökhan Yildirim, Jan 11, 2014
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    • "However, certain clues can suggest VACTERL-type anomalies, such as polyhydramnios and lack of a gastric bubble due to TEF, and a dilated colon due to imperforate anus [34,70]. Other features, such as some types of vertebral anomalies, cardiac malformations, renal anomalies, and limb abnormalities, may be ascertained more easily by antenatal ultrasound [71,72]. "
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    ABSTRACT: VACTERL/VATER association is typically defined by the presence of at least three of the following congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. In addition to these core component features, patients may also have other congenital anomalies. Although diagnostic criteria vary, the incidence is estimated at approximately 1 in 10,000 to 1 in 40,000 live-born infants. The condition is ascertained clinically by the presence of the above-mentioned malformations; importantly, there should be no clinical or laboratory-based evidence for the presence of one of the many similar conditions, as the differential diagnosis is relatively large. This differential diagnosis includes (but is not limited to) Baller-Gerold syndrome, CHARGE syndrome, Currarino syndrome, deletion 22q11.2 syndrome, Fanconi anemia, Feingold syndrome, Fryns syndrome, MURCS association, oculo-auriculo-vertebral syndrome, Opitz G/BBB syndrome, Pallister-Hall syndrome, Townes-Brocks syndrome, and VACTERL with hydrocephalus. Though there are hints regarding causation, the aetiology has been identified only in a small fraction of patients to date, likely due to factors such as a high degree of clinical and causal heterogeneity, the largely sporadic nature of the disorder, and the presence of many similar conditions. New genetic research methods offer promise that the causes of VACTERL association will be better defined in the relatively near future. Antenatal diagnosis can be challenging, as certain component features can be difficult to ascertain prior to birth. The management of patients with VACTERL/VATER association typically centers around surgical correction of the specific congenital anomalies (typically anal atresia, certain types of cardiac malformations, and/or tracheo-esophageal fistula) in the immediate postnatal period, followed by long-term medical management of sequelae of the congenital malformations. If optimal surgical correction is achievable, the prognosis can be relatively positive, though some patients will continue to be affected by their congenital malformations throughout life. Importantly, patients with VACTERL association do not tend to have neurocognitive impairment.
    Full-text · Article · Aug 2011 · Orphanet Journal of Rare Diseases
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    ABSTRACT: ZET Amaç: Perinatoloji ünitesinde saptanan ve gebelik sonlan-dırmasına giden konjenital vertebra anomalilerin dağılımı. Yöntem: 2002-2007 yılları arasında hastanemiz yenidoğan-perinatoloji konseyinde görüşülen, danışma aldıktan sonra sonlandırmayı seçen 171 doğumsal vertebra patolo-jisi retrospektif olarak incelenmiştir. Bulgular: Vertebra anomalisi olan 171 olgunun 153'ü nde açık nöral tüp defekti bulunmuştur. Spina bifida bulguları-na eşlik eden en sık anomaliler anensefali (% 31.2), akrani (% 9.7) ve iniensefali (% 7.6) olmuştur. Intrakranial yapı-larda patolojik gelişim saptanan olgulara gebelik sonlan-dırması önerilmiştir. Altı izole iniensefali olgusu saptanmış ve sonlandırılmıştır. Yedi skolyoz olgusunun 3 tanesi açık nöral tüp defektleri ile birlikte olup, diğer 4 skolyoz hepsin-de eşlik eden iskelet displazileri görülmüştür. İki hemiver-tebra olgusunda ebeveynler gebeliği sonlandırmaya karar vermiştir. Bir diastematomiyelia olgusunun nöral tüp defek-tine eşlik ettiği görülmüştür. Aynı şekilde bir kaudal regres-yon sendromu ve bir sirenomelia olgusu gebeliği sonlan-dırmıştır. Beş tane sakrokoksigeal teratom olgusunun dört tanesinde hydrops gelişmiş ve intrauterine fetal kayıp ger-çekleşmiştir. Sonuç: Vertebra anomaliler embriyogenezin erken dönem-lerinde gelişir ve erken tanısı olasıdır. Bununla birlikte, vertebra anomalilerde prognoz, intrakraniyal etkileşim nedeniyle olumsuzlaşmaktadır. Bu hastalara gebelik son-landırması seçeneği sunulabilmelidir. Anahtar kelimeler: prenatal tanı, spina bifida, iniensefali, skolyoz, hemivertebra, diastematomiyelia, sakral agenezi, sirenomelia, sakrokosigeal teratom SUMMARY Objective: To evaluate the dispersion of congenital verteb-ra abnormalities detected and terminated in our perinato-logy department.
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    ABSTRACT: A 38-week-gestational age male neonatal death from a 27-year-old-mother was reported. The autopsy found multiple congenital anomalies such as scoliosis of thoracic spine with 13 pairs of ribs, anal atresia, bilateral renal agenesis, and clubfeet. These anomalies were diagnosed VACTERL--association that must include at least three out of six principal anomalies of previously mentioned, e.g., (1) V--vertebral defects, (2) A--anal atresia, (3) C--cardiac anomalies, (4) TE--tracheo-esophageal fistula, (5) R--renal anomalies, and (6) L--limb abnormalities. In addition, other anomalies were also observed in this case, i.e., cryptorchidism both sides, jejunal diverticulum, and aberrant abdominal umbilical arteries.
    No preview · Article · Oct 2012 · Journal of the Medical Association of Thailand = Chotmaihet thangphaet
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