1/29. 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 = physician (Clic here for more details about this article) |
2/29. weill-marchesani syndrome in three generations.BACKGROUND: weill-marchesani syndrome is a rare systemic connective tissue disorder consisting of brachymorphy, brachydactyly, ectopia lentis, spherophakia and glaucoma. methods: We report 6 patients with weill-marchesani syndrome (with or without ocular involvement) in three generations, identified by screening 26 members of two families. This is the largest family in the literature showing an autosomal dominant pattern of inheritance. RESULTS: Presenile vitreous liquefaction was present in all the younger cases. weill-marchesani syndrome was full-blown in two cases in the third generation, in which asymmetrical axial length and glaucomatous damage were present. To our knowledge this is the first report regarding asymmetrical axial length and glaucomatous damage, and presenile vitreous liquefaction in weill-marchesani syndrome with or without ocular involvement. CONCLUSIONS: The longer axial length might be the precursor of impending severe glaucomatous damage. Presenile vitreous liquefaction in subtle young cases should alert the physician to the diagnosis of weill-marchesani syndrome on screening of the family members.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
3/29. Cowden disease.Cowden disease represents an unusual, but unique syndrome which can be recognized most consistently by the development of characteristic verrucous, keratotic, papular, and nodular lesions about facial orifices, on the oral mucosa, and over the dorsal surfaces of the forearms and hands. The cause of these diverse hyperplastic changes is not known. Recognition of these lesions as signs of more extensive disease should alert the physician to examine the thyroid gland, breasts, female reproductive tract, GI tract, and skeleton for evidence of the associated changes we have enumerated. Because of the tendency for lesions of the thyroid, breast, and intestines to undergo malignant change, these patients require close observation and evaluation.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
4/29. A technique for maintenance of airway access in infants with a difficult airway following tracheal extubation.Tracheal extubation of patients with a difficult airway represents a challenge to anaesthesiologists and intensive care physicians. While a variety of techniques designed to maintain access to the airway in case of the need for tracheal reintubation have been described in adults, no reports have been published in infants and young children. We describe an approach to this issue in a young child with severe micrognathia.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
5/29. retrocaval ureter and associated abnormalities.OBJECTIVE: To investigate the association of retrocaval ureter with other congenital abnormalities. methods AND patients: Two new cases of retrocaval ureter are discussed and a detailed electronic search of the literature was mainly focused on the concomitant abnormalities. The first of our patients had also a glandular hypospadias and a supernumerary lumbar vertebra, while the second one had syndactylia (fixed toes) in both feet. Results. The review of the literature revealed that 21% of the cases of retrocaval ureter present with concomitant abnormalities mainly from the cardiovascular system and the genitourinary tract. CONCLUSION: Diagnosis of retrocaval ureter should increase the awareness of the responsible physician on the possibility of concomitant malformations where treatment could prevent future symptoms.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
6/29. Sacral hemangioma with sinus tract in an infant.Congenital midline cutaneous lesions should always alert the clinician to the possibility of spinal dysraphism. These lesions can take many different forms. The physician should be cognizant of such lesions in order to avoid potential neurologic complications. We present a patient with a midline sacral hemangioma associated with a congenital enteric sinus cyst, a previously unreported association.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
7/29. VATER association.Baby S began oral feedings on day 8 at 20 ml/kg/day. The infant reached full enteral feedings on day 11 and was subsequently advanced to an ad lib demand schedule. The broviac catheter was removed on day 13. An orthopedic surgeon was consulted to evaluate abnormalities of the upper extremities and hip laxity noted on admission examination. The orthopedic specialist found decreased abduction of the hips bilaterally with no instability and normal range of motion on exam. An ultrasound showed bilateral posterior subluxation with no frank dislocation. The infant was evaluated by a physical therapist and received daily splinting and stretching of the upper extremities, with continued evaluation planned following discharge. When the infant was discharged on day 15, she was breastfeeding on a demand schedule with bottle supplementation and continued to receive ranitidine and metoclopramide. Follow-up was scheduled with the cardiologist, the orthopedic surgeon, and the family physician.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
8/29. First-trimester diagnosis of osteogenesis imperfecta associated with encephalocele by conventional and three-dimensional ultrasound.To illustrate the three-dimensional sonographic features of a rare genetic disorder, we report on prenatal diagnosis of osteogenesis imperfecta congenita associated with encephalocele at 13 weeks of gestation, using conventional and three-dimensional ultrasound. Because the parents were first-degree cousins and on the basis of the family history, a recessive autosomal inheritance was suspected. Of seven previous pregnancies, five were unaffected and two had been terminated in the second trimester owing to a similar abnormality (one affected boy and one affected girl). In the case we present, the diagnosis was made on the basis of two-dimensional ultrasound performed by physicians aware of the history; the quality of three-dimensional ultrasound imaging suggests that this technique might have contributed toward establishing a precise diagnosis in the absence of a positive family history. Besides, the global view provided by three-dimensional surface-rendering images made the parents more confident of the accuracy of the diagnosis. Although osteogenesis imperfecta congenita is generally considered as autosomal dominant, the case we report suggests that it may be inherited in a recessive autosomal fashion at least when associated with encephalocele. Three-dimensional ultrasound confirmed the conventional two-dimensional examination and was helpful in convincing the parents of the accuracy of the diagnosis.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
9/29. Megacystis-microcolon-intestinal hypoperistalsis syndrome. Antenatal appearance in two cases.Two cases with severe congenital megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) are presented. This is a rarely encountered syndrome in neonates and 45 cases have earlier been reported. The disease is usually lethal and it now seems clear that MMIHS is an autosomal recessive disorder. The enlarged bladder, typical of this syndrome, is however easy to define by ultrasound, sometimes even in early pregnancy. The concomitant finding of a dilatation of the urinary tract and the absence of oligohydramnios may lead the physician to suspect the diagnosis. Because of the information available from sonography, appropriate investigations can be undertaken immediately after delivery. Prenatal ultrasound examination in subsequent pregnancies is recommended.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
10/29. Nevo syndrome is allelic to the kyphoscoliotic type of the ehlers-danlos syndrome (EDS VIA).We report on seven patients affected with Nevo syndrome, a rare, autosomal recessive disorder characterized by increased perinatal length, kyphosis, muscular hypotonia, and joint laxity. Since its first description by Nevo et al. [1974], only a few cases have been reported. Because some of these patients present clinical features similar to those of the kyphoscoliotic type of ehlers-danlos syndrome (EDS VIA), an inherited connective tissue disorder characterized by a deficiency of lysyl hydroxylase due to mutations in PLOD1, we studied seven patients with Nevo syndrome, three of whom have previously been reported, and four of whom are new. In the five patients from whom urine was available, the ratio of total urinary lysyl pyridinoline (LP) to hydroxylysyl pyridinoline (HP) was elevated (8.2, 7.8, 8.6, 3.5, and 4.8, respectively) compared with that in controls (0.20 /- 0.05, range 0.10-0.38), and similar to that observed in patients with EDS VIA (5.97 /- 0.99, range 4.3-8.1). Six patients were homozygous for a point mutation in exon 9 of PLOD1 causing a p.R319X nonsense mutation, while one patient was homozygous for a large deletion comprising exon 17 of PLOD1. We conclude that the Nevo syndrome is allelic to and clinically indistinguishable from EDS VIA, and present evidence that increased length at birth and wristdrop, in addition to muscular hypotonia and kyphoscoliosis, should prompt the physician to consider EDS VIA earlier than heretofore.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
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