Cases reported "Syndrome"

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1/54. Multiple systemic and periocular malformations associated with the fetal hydantoin syndrome.

    anticonvulsants remain necessary during pregnancy and the removal of such drugs is not recommended. However, on the available evidence, the physician may expect an increased risk of malformation including eye abnormalities as has been outlined. The abnormalities include growth deficiencies and delayed motor/mental development together with dysmorphic features, the most common of which seems to be cleft lip/cleft palate. Additionally, many of these children suffer from eye abnormalities including hypertelorism, ptosis, strabismus, epicanthal folds, and in this case abnormalities of the lacrimal apparatus.
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2/54. The cerebro-costo-mandibular syndrome: 9-year follow-up of a case.

    Cerebro-costo-mandibular syndrome (CCMS) is a rare multiple congenital anomaly with a low survival rate. There are few reports of long-term survival in this condition. We describe the findings and management of a 9-year-old survivor of CCMS, outline the importance of early intervention and multidisciplinary team approach. The child presented in the neonatal period in respiratory distress with classical features of the syndrome. Aggressive initial respiratory management was later followed up with an integrated multidisciplinary team approach. He has been carefully followed up for nine years now, illustrating well, the course of the syndrome.
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3/54. A congenital left ventricular diverticulum combined with a complex malformation syndrome.

    Congenital left ventricular diverticulum is rare and usually isolated or associated with midline thoracoabdominal defects and other congenital cardiac malformations. We describe a case with a previously undescribed malformation syndrome including bilateral obstruction of the ureteropelvic junction, agenesis of corpus callosus, scoliosis, hip dysplasia, severe developmental delay, failure to thrive and congenital left ventricular diverticulum but with normal GTG-banded karyotype. The cardiac lesion was suspected on echocardiography and was confirmed by cineangiography, which outlined a huge apical diverticulum opening through a wide ostium into the left ventricular cavity. To our knowledge this case report is the first description of an association with such a malformation syndrome.
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4/54. Cervical instability in sotos syndrome: a case report.

    STUDY DESIGN: A case report on cervical instability detected in a patient with sotos syndrome, along with a review of the literature on sotos syndrome and associated spinal findings. OBJECTIVE: To present the case of a patient with a C3-C4 anterolisthesis occurring in the setting of sotos syndrome and explore a possible association between the two. SUMMARY OF BACKGROUND DATA: sotos syndrome, a rare overgrowth syndrome with slightly more than 300 cases reported in the English literature to date, is characterized by a unique constellation of symptoms and signs including musculoskeletal findings such as scoliosis, pes planus, generalized ligamentous laxity, and increased growth rates. Cervical instability as part of this syndrome is unreported and rarely presents as a C3-C4 anterolisthesis. methods: A case report detailing the evaluation and treatment of a cervical instability in a 3-year-old with sotos syndrome. RESULTS: A previously unreported cervical spine instability in sotos syndrome is described. The patient underwent a posterior spinal fusion of C3 and C4 to avoid complications from the instability. The surgery achieved good results. CONCLUSION: We outline a possible connection between sotos syndrome and cervical instability, which may be associated with the unique features of this syndrome including ligamentous laxity or macrosomia and/or with unrecognized injury. awareness of this occurrence is important for enhancing early detection and correction of this condition.
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5/54. KBG syndrome in a cohort of Italian patients.

    KBG syndrome comprises a distinct facial phenotype, macrodontia, short stature, and skeletal anomalies. So far, it has been reported in 29 individuals. Recently, diagnostic criteria were outlined. Here, we describe eight new patients whose clinical and radiological findings fit the diagnostic criteria of KBG syndrome. While most patients were sporadic in occurrence, in two families the disorder was transmitted from mildly affected mothers to their affected children. The phenotype of KBG syndrome has been reviewed based on published and present patients. EEG anomalies with or without seizures, mixed hearing loss, palatal anomalies with secondary speech disorder, distinct age-related behavior, and cryptorchidism are possible additional characteristics. Less common manisfestations were posterior fossa malformations, eye defects, and congenital heart defects.
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6/54. Acardia syndrome coexisting with gastroschisis in the co-twin.

    Acardia syndrome is a rare complication affecting monozygotic twins, wherein one twin fails to develop brain and thoracic structures, while the co-twin most often develops normally. In this report we present an acardiac anencephalic monozygotic twin with an omphalocoele and a co-twin with severe intrauterine growth retardation and gastroschisis. The presence of gastroschisis in the co-twin of an acardiac foetus is rare. The embryologic basis of the twin reversed arterial perfusion (TRAP) sequence is outlined and the observed anomalies in the co-twin traced to a similar pathophysiology.
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7/54. wolf-hirschhorn syndrome--two case-study reports focusing particularly on long-term survival.

    BACKGROUND: The clinical features of this rare chromosomal syndrome are described in two individuals. Our limited knowledge of the natural history of this disorder has made it difficult to counsel parents as well as outline specific treatment and management plans. METHOD: Interviews were undertaken with subjects, carers and next of kin, and the literature was searched. RESULTS: Pertinent features of the syndrome are reported. MAIN CONCLUSIONS: These two cases highlight that long-term survival may occur and that accurate diagnosis is paramount so that healthcare professionals are able to provide accurate information.
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8/54. heparin-induced thrombocytopenia in the pediatric intensive care unit population.

    OBJECTIVES: To report the occurrence of heparin-induced thrombocytopenia (HIT), discuss its pathophysiology, and outline an approach to management in the pediatric intensive care unit (ICU) patient. DESIGN: Retrospective case reports. SETTING: Pediatric ICU in a tertiary-care center. patients and RESULTS: Two pediatric ICU patients (2 and 6 mos of age) who developed HIT in the pediatric ICU. One was receiving heparin as a flush solution through a central line and the other had full heparinization during cardiopulmonary bypass. Both had received heparin during their neonatal course and developed thrombocytopenia; however, HIT was not considered as a possible diagnosis. HIT was diagnosed using a heparin-induced platelet aggregation study. The thrombocytopenia resolved with the cessation of heparin administration. One of the patients developed a deep vein thrombosis around a femoral venous catheter. CONCLUSION: Although well described in the adult literature, there have been a limited number of reports of HIT in pediatric-aged patients. Given its potential for morbidity, HIT should be considered in the differential diagnosis of thrombocytopenia in the pediatric ICU patient.
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9/54. Freeman-Sheldon syndrome: dental and orthodontic implications.

    The manifestations of the Freeman-Sheldon syndrome (FSS) in four members of a South African family of Xhosa stock have been documented. Orofacial manifestations are a major syndromic component and warrant early, specialized orthodontic intervention. Our protocol for dental management is outlined and suggestions for holistic oro-dental care are provided.
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10/54. Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome.

    We report on a case of neonatal hypothalamic hamartoblastoma with holoprosencephaly, hirschsprung disease, and tetramelic postaxial polydactyly. Twenty-seven previous cases of congenital hypothalamic embryonic tumours with associated congenital defects are reviewed. A classification in isolated, associated, and syndromal forms is proposed. The difficulties encountered in differential diagnosis between the syndromal form (mainly represented by the pallister-hall syndrome) and related diseases as Smith-Lemli-Opitz type II, holoprosencephaly-polydactyly, orofaciodigital type VI and hydrolethalus syndromes are outlined. Two pathogenic mechanisms are discussed: a classical pleiotropic model and single sequence model. The latter is sufficient to delineate syndromal hypothalamic hamartoblastoma. With the former, syndromal hypothalamic hamartoblastoma cannot be clearly recognized in the absence of a CNS tumour, a child with syndromal hypothalamic hamartoblastoma cannot be reliably diagnosed as Pallister-Hall rather than another MCA syndrome, and, ultimately, the existence of pallister-hall syndrome could be questioned, as it could only be the extreme expression of one or several other syndromes. As this hypothesis cannot be proven or disproven at this point, the authors suggest creating the concept of multiplex phenotype. "Cerebro-Acro-Visceral Early lethality multiplex syndrome" is suggested to encompass all the ambiguous cases. Within this complex, an operative classification key is proposed.
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