1/32. 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.- - - - - - - - - - ranking = 1keywords = outline (Clic here for more details about this article) |
2/32. scoliosis associated with typical Mayer-Rokitansky-Kuster-Hauser syndrome.Disorders that cause congenital scoliosis include Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. We present the case of a 46-year-old karyotypical (XX) woman with mullerian agenesis (MRKH type A, typical form), a rudimentary bicornate uterus, a blind vaginal pouch, and adenocarcinoma of both ovaries with subsequent bilateral salpingo-oophorectomy. She also had scoliosis of the thoracic and lumbar spine, an association thus far seen only among patients with type B (atypical) MRKH. We describe typical and atypical forms of MRKH and emphasize how these various anomalies associated with mullerian agenesis have affected the classification of the syndrome. We also outline possible embryologic etiologies of mullerian agenesis.- - - - - - - - - - ranking = 1keywords = outline (Clic here for more details about this article) |
3/32. 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.- - - - - - - - - - ranking = 1keywords = outline (Clic here for more details about this article) |
4/32. 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.- - - - - - - - - - ranking = 1keywords = outline (Clic here for more details about this article) |
5/32. Anencephalic infant with cleft palate and natal teeth: a case report.OBJECTIVE: Natal/neonatal teeth are very common in children with complete unilateral and bilateral cleft lip and palate. This article outlines a patient with intrauterine growth retardation, anencephaly, atrial septal defect, ventricular septal defect, two maxillary first natal incisor teeth, cleft palate, short neck, low-set ears, hypertelorism, retrognathia, and simian-line on the right hand. There is no conclusive evidence of a correlation between these findings and a known syndrome, suggesting that this case may be a hitherto undefined clinical combination with neonatal teeth.- - - - - - - - - - ranking = 1keywords = outline (Clic here for more details about this article) |
6/32. Absent pulmonary valve and origin of left pulmonary artery from ascending aorta.A rare combination of tetralogy of fallot, absent pulmonary valve and absent left pulmonary artery is described. The clinical and angiographic profile and the impact on management are discussed. The embryology is outlined.- - - - - - - - - - ranking = 1keywords = outline (Clic here for more details about this article) |
7/32. Balanced complex chromosomal rearrangements (BCCR) with at least three chromosomes and three or more breakpoints: report of three new cases.Balanced complex chromosomal rearrangements (BCCR) encompass a heterogeneous group of rare chromosomal aberrations. In this paper, we report three cases of BCCRs. In two the probands were referred for either genetic counseling or prenatal management. One case was ascertained after chromosome analysis performed because of psychiatric manifestations; this was an isolated finding. We also outline the molecular cytogenetic techniques, which were essential in confirming and precisely delineating the BCCRs identified in these patients. In addition the various aspects of genetic counseling for this type of chromosomal rearrangement, highlighting the details particular to each individual case are discussed. We discuss the classification for this type of chromosomal mutation.- - - - - - - - - - ranking = 1keywords = outline (Clic here for more details about this article) |
8/32. 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.- - - - - - - - - - ranking = 1keywords = outline (Clic here for more details about this article) |
9/32. 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.- - - - - - - - - - ranking = 1keywords = outline (Clic here for more details about this article) |
10/32. Effects of ischaemia and hypoxia on the development of the nervous system in acardiac foetus.The twin-reversed arterial perfusion (TRAP) sequence and development of an acardius are rare and severe complications in monozygotic twin pregnancy. Haemodynamic disturbances in placental perfusion via abnormal vascular anastomoses allow inter-twin transfusion to occur. Because of blood perfusion, one of the twins is poorly oxygenated and contains metabolic waste products. Retrograde placental perfusion leads to the formation of a non-viable malformed acardiac foetus. We studied the effects of haemodynamic disturbances in acardiac foetus on the development of the nervous system. The acardius was a product of a 32-weeks pregnancy. Caesarean section yielded a skin covered ovoid mass (size, 10 x 8 cm; weight, 220 g). The dissection of the acardiac twin showed a skin with hair and appendages, rudimentary lower limbs, vertebral column and brain mass. The rudimentary brain tissue was considerably disorganised structurally. We distinguished two main morphological forms of various appearances. In the centre, we observed a scarcely vascularised mass of tissue containing mature and immature neurones, glial cells and randomly distributed fibres. The mass of tissue appeared poorly differentiated, although there were some arrangements reminiscent of cerebral structures. Clusters of neurones provided a slight suggestion of nuclear or fibre structure. The cerebellar cortex was the only well recognisable structure. In the other fragment of the tissue, we found a slit cavity with ependymal outline and well-developed choroid plexus, which seemed to represent the 3rd ventricle. The scarcely vascularised disorganised tissue was surrounded by the highly vascularised one. It included many thin-walled sinusoid vessels. In some places, they were so concentrated that they resembled cavernous haemangioma. The spinal cord appeared comparatively well organised with a slightly dilated central canal. The morphological picture of the rudimentary brain tissue was similar to the picture of the cerebrovasculosa area. The effect of ischaemia in the presented case is the anomalous formation of the cerebral structures. The morphological features imply that the failure occurred after neurulation and before the prosencephalic began to grow. The failure of neural tube formation occurred on the 22nd-25th day of gestation. The malformed formation of the nervous system might be caused by impaired induction due to altered gene expression or to the interference of exogenous agents that interrupt normal development. The haemodynamic abnormal placental circulation, which induced lack of oxygen supply and nutritional deficiency, implies the morphological pattern of the anomaly.- - - - - - - - - - ranking = 1keywords = outline (Clic here for more details about this article) |
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