Association Of Anomalies Research Articles

Cervicothoracic Spinal Dysraphism: Unravelling the Pandora's Box.

Introduction:Cervicothoracic spinal dysraphism (CTSD) is relatively rare with reported incidence of 1%–6.5%. The entity has a separate spectrum of associations with other anomaly such as split cord malformation, Chiari malformation, and corpus callosum agenesis as compared with its lumbosacral counterpart. In this study, we have highlighted the associated anomalies (AAs). To the best of our knowledge, this study is one of the largest series reported before.Materials and Methods:In this study, we included the patients with spinal dysraphism operated between December 2007 and December 2017 at the Department of Neurosurgery. All patients underwent neurological and radiological examinations followed by surgical excision of the sac and exploration of the intradural sac. Neurological, orthopedic, and urological abnormalities were analyzed in our retrospective description. The last available follow-up in hospital records was taken for outcome assessment.Results:Of 34 cases, 18 were women and 16 were men. Seven of nine patients in cervical group had AAs, whereas 22 of 25 patients in dorsal group had AA. In this study, we taken 6 patients with Chiari malformation, 4 with corpus callosum agenesis, 7 with hydrocephalus, and 16 with split cord malformation. The follow-up ranges from 1 year to 11 years with a mean of 59.45 months.Conclusion:The management strategy and association with other congenital anomalies separate CTSD as different clinical entity as compared with their lumbosacral counterparts. These patients show relatively favorable outcome with regard to neurological, orthopedic, and urological symptoms. Early surgical intervention after proper radiological and clinical evaluation is recommended.

Registry analysis supports different mechanisms for gastroschisis and omphalocele within shared developmental fields.

Nine thousand two hundred eighty abnormalities associated with 2,943 abdominal wall defects (AWD) encoded from 1999 to 2008 by the Texas Birth Defects Registry (TBDR) were classified and analyzed for mechanism, beginning with 1,831 gastroschisis cases, 774 (41%) with 2,368 associated anomalies (AA) and 814 of omphalocele, 727 (89%) with 4,092 AA. Typical AA profiles for Trisomy 18 (23% of omphalocele cases) and Beckwith-Wiedemann syndrome (15%) validated registry AA descriptors, chromosome disorders surprisingly accounting for 24% of known conditions with gastroschisis followed by expected amniotic band (ADAM) complex (23%) and amyoplasia/arthrogryposis (16%). Separation of known diagnoses, fetal-stillbirth cases, and transitional or secondary AA left 330 cases of gastroschisis with 594 AA (452 major, 142 minor) and 295 cases of omphalocele with 956 AA (683 major, 273 minor). Anomalies suggestive of vascular origin (intestinal atresias, amyoplasia, bands) were more frequent with gastroschisis and those of defective lateral folding (exstrophies, limb-body wall defects) with omphalocele. Most AA favoring omphalocele had parallel frequencies with gastroschisis, whether by system/region-for example, cardiac AA (10% of cases), contractures (4.7%), limb (3.7%), CNS (3.2%) for gastroschisis versus cardiac (35%), contractures (14%), digestive-excretory-trunk-axial (all ∼11%), CNS (9.9%) for omphalocele-or for particular minor/major AA-for example, micrognathia (0.72% versus 3.3%), spina bifida (0.59% versus 3.9%), anal atresia (0.73% versus 6.4%), two-vessel cord (0.22% versus 5.6%). Similar frequencies of many AA reflective of early patterning support common AWD origin within early developmental fields and reinforce the use of large birth defect numbers from suitably qualified registries to define anomaly mechanism as well as prevalence.

PS-289 Does Local Experience In The Management Of Simple Gastroschisis (sg) Matter? (local Practice Versus National Benchmark Data): Abstract PS-289 Table 1

<h3>Background</h3> The most commonly performed procedures for SG are operative primary fascial-closure (OPC) and application of a preformed silo with delayed fascial-closure (PS). There is no consensus on optimal management. <h3>Aim</h3> To compare our outcomes of SG-newborns after OPC with outcomes from a national cohort (British Association of Paediatric Surgeons-Congenital-Anomalies-Surveillance-System, BAPS-CASS) after OPC or PS. <h3>Methods</h3> Retrospective comparison of SG-infants from a tertiary centre (2006–2013) with SG-newborns from BAPS-CASS. We compared baseline characteristics and outcomes: Antenatal diagnosis (AD), in-utero-transfer (IUTR), vaginal delivery (VD), gestational age ≥37 weeks (GA), birthweight ≥ 2500 g (BW), male gender (MALE), associated anomalies (AA); type/success of surgery, re-operation (RE-OP), abdominal compartment (AC), wound infection (WI), mechanical-ventilation (MV), parenteral nutrition &lt;28 days (TPN), intestinal failure associated liver disease (IFALD), length of stay &lt;30 days (LOS) and mortality. Data-presentation: Percentage (%). Data-analysis: Fisher’s-Exact-Test (p &lt; 0.05). <h3>Results</h3> 25 SG-newborns were compared with 336 newborns from BAPS-CASS. Baseline-characteristics were not significantly different (GA 60% vs 57% [p = 0.78], BW 56% vs 43% [p = 0.21]), rest not displayed). Significantly more OPC were intended and successfully completed locally than nationally (96% vs 42% [p &lt; 0.0001]; 100% vs 82% [p = 0.03]). Outcomes were: Compared to national PS TPN and LOS were significantly shorter after OPC locally (80% vs 48%[p = 0.004]; 68% vs 28%[p &lt; 0.0001]); rest of outcomes not significantly different. <h3>Conclusions</h3> Longstanding local experience with OPC positively affects outcomes in SG-infants exceeding some national outcomes irrespective of surgical method.

Congenital diaphragmatic hernia and associated anomalies: Their incidence, identification, and impact on prognosis

The general concept of the association of congenital diaphragmatic hernia (CDH) with other anomalies has been well described. This study is aimed at assessing the distribution of the associated anomalies (AA) by organ system, their influence on prognosis, and the practical signs that should prompt a diagnostic search. One hundred and sixty-six high-risk patients with CDH (symptomatic within the first 6 hours of life) were treated in this institution in the past decade. Sixty-five patients (39.2%) were found to have one or more AA, and 101 had isolated CDH. Of patients with anomalies, cardiac (excluding patent foramen ovale and patent ductus arteriosus) was the most frequent type of AA (63%). Hypoplastic heart syndrome was the most common defect. Many patients had multiple AA. For purposes of analysis, the patients were divided into three groups: isolated CDH, cardiac anomalies, and all other anomalies. The groups were compared with respect to several common clinical and laboratory variables, as well as survival. The frequency and timing of antenatal diagnosis were also noted. The analysis led to the following conclusions. (1) AA are present in more than one third of high-risk patients with CDH; in this group, cardiac lesions predominate. (2) High-risk CDH infants with AA have significantly lower APGAR scores and a lower BPDP o 2 (best postductal P o 2 before ECMO or surgery) than those with isolated CDH. This is even more evident in the group with cardiac AA. In such patients, a careful search for an undetected AA, especially cardiac, is warranted. (3) Antenatal diagnosis of CDH, especially before 25 weeks' gestation, is a risk factor for the presence of life-threatening AA (omphalocele, cardiac, central nervous system, and chromosomal AA). (4) High-risk CDH infants with cardiac AA are unsalvageable with current therapeutic strategies, including ECMO. Infants in this group must have the cardiac anomaly addressed along with the CDH if the abysmal survival rate (zero) is to change.

OCULAR ANOMALIES IN ASSOCIATION WITH DEVELOPMENTAL LIMB ABNORMALITIES OF DRUG ORIGIN

OCULAR ANOMALIES IN ASSOCIATION WITH DEVELOPMENTAL LIMB ABNORMALITIES OF DRUG ORIGIN