1/8. Foreign body ingestion in children with severe developmental disabilities: a case study.Dysphagia is common in children with severe developmental disabilities. The nature of these difficulties can predispose them to foreign body ingestion. This article presents a case that highlights the need for vigilance in diagnosing dysphagia in children with multiple and complex developmental disabilities where severe cognitive impairment and an inability to communicate may mask the presence of underlying problems.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
2/8. Bilateral Tessier no. 4 facial cleft with left eye anophthalmos: a case report.Craniofacial clefts are very rare and manifest in a variety of patterns. Tessier classified these clefts in 1973 and numbered them 0 to 14. Tessier No. 4 Facial cleft is a rare variant of craniofacial cleft. Not more than 50 cases are reported in world literature, amongst which only 5 cases are true bilateral in nature. However, combinations of two different variants are not very uncommon. A case of male Indian child aged 4 years with a true bilateral Tessier No. 4 Facial cleft is reported. He also had anophthalmos of the left eye. This is probably the first case in which true bilateral Tessier No. 4 Facial cleft with anophthalmos of one eye is noticed.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
3/8. Report of a child with aortic aneurysm, orofacial clefting, hemangioma, upper sternal defect, and marfanoid features: possible PHACE syndrome.We report a female patient who had a scalp hemangioma, a cleft uvula, an upper sternal defect, pectus excavatum, arachnodactyly, pes planus, and joint hypermobility. She had rupture of an aortic aneurysm after minor trauma at 11 years of age. At 17 years of age, elective repair of a dilated, ectatic aorta was complicated by cerebral ischemia. Other vascular abnormalities in the proband included an aneurysm of the left subclavian artery, atresia of the right carotid artery, and calcified cerebral aneurysms. We believe that the proband's physical anomalies are best described by the PHACE (posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities) phenotypic spectrum. This spectrum of physical anomalies also includes sternal clefting and hemagiomas as part of the sternal malformation/vascular dysplasia (SM/VD) association, as found in our patient, and the acronym PHACES has also been used. We consider that the PHACE phenotypic spectrum is likely to be broader than previously recognized and includes orofacial clefting and aortic dilatation and rupture. Our patient also had skeletal anomalies that lead to consideration of marfan syndrome as a diagnosis. It should be recognized that there is clinical overlap between PHACE syndrome and marfan syndrome when aortic dilatation is present. We would also like to emphasize the minor nature of the cutaneous findings in our patient despite her severe vascular complications. This is in contrast to previous reports of large or multiple hemangiomas in PHACE syndrome.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
4/8. Oblique facial clefts: pathology, etiology, and reconstruction.Modern views on embryology have increased our understanding of the nature of oblique facial clefts. The anomalies that have their origin at the junction of facial processes, such as the nasomaxillary dysplasias, may be named primary clefts or transformation. The maxillary clefts that are due to a developmental arrest of the skeleton are in fact secondary defects of differentiation defects. The teratology of these malformations is discussed, and attention is drawn to the amniotic rupture syndrome as a possible cause. All these clefts are rare, their incidence ranging from 0.75 to 5.4 per 1000 common clefts. This author has been involved in the treatment of nine of these patients. Four had their malformation reconstructed with one of the conventional procedures described in the literature, but the results, although initially acceptable, soon deteriorated. A more aggressive approach was therefore chosen. rotation and advancement of the cheek proved to be extremely effective and is now advocated as the procedure of choice. The transposition of a median forehead flap is considered an excellent alternative. Use of these procedures in five patients is reported. There were no complications.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
5/8. Tandem dup (1p) within the short arm of chromosome 1 in a child with ambiguous genitalia and multiple congenital anomalies.A newborn infant was found to have multiple congenital anomalies including bilateral cleft of lip and palate, intrauterine growth retardation, microcephaly, tetralogy of fallot, ambiguous external genitalia, and presence of male and female internal genitalia. Chromosome analysis showed a tandem duplication of part of the short arm of chromosome 1, resulting in a dup(1p31 35). The karyotype designation is 46,XY,dir dup(pter 31::p35 p31::p31 qter). The exact nature of the chromosome anomaly was clarified with use of several banding methods.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
6/8. Use of osseointegrated implants to support a maxillary denture for a patient with repaired cleft lip and palate.Although many cleft lip and palate patients retain their dentition, some develop partial or complete edentulism. The configuration of the residual maxillary alveolar ridge may provide little support for a complete or partial maxillary denture. The success of the Branemark dental implant has been well established, and although placement of implants in the maxilla may present a surgical challenge, implants are very effective in providing support and, therefore, retention and stability. Application of implants to the cleft palate maxilla is particularly valuable because of the difficulty in constructing well-fitting conventional dentures for CLP patients, and the relatively compromised nature of the prostheses when made. This report presents the prosthetic treatment of a nearly edentulous cleft lip and palate patient.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
7/8. On two patients with and without the classical wolf-hirschhorn syndrome (WHS) sharing the same chromosome 4p16.3 specific probe deletion: evidence of a contiguous gene deletion syndrome.We report here on phenotype-karyotype correlations in two patients with and without complete features of the WHS but sharing the lack of a specific cosmic probe (D4S96/D4Z1) from 4p16.3. These findings indicate that WHS is true a contiguous gene deletion syndrome in nature and expression.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
8/8. Our treatment of cleft lip and cleft palate.Our principle in cleft lip and cleft palate repair is all-round personal treatment. That is, treatment concentrates not only on cleft lip and cleft palate repair, but also considers the patient comprehensively in terms of his or her personality. In this report, we present patients with cleft lips and/or cleft palates for whom we performed surgical treatments in the past 25 years. We performed primary operations for 402 patients and secondary operations for 120. cleft lip and cleft palate should be managed with consideration for otolaryngeal aspects as well as plastic surgical ones because of the nature of the disease. We therefore treated our patients from the standpoints of both medical fields, and gained much appreciation from parents whose children suffered from the congenital anomaly.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |