1/10. Fetal diaphragmatic hernia and upper limb anomalies suggest Brachmann-de lange syndrome.We describe two independent cases of Brachmann-de lange syndrome (BDLS) in which second trimester fetal sonographic studies showed the presence of a diaphragmatic hernia and upper limb anomalies. In both cases the karyotypes were normal. Intrauterine growth restriction (IUGR) developed in the third trimester. Postnatal and postmortem physical examinations demonstrated typical physical findings associated with BDLS. The prenatal diagnosis of diaphragmatic hernia with associated anomalies should prompt consideration of an underlying genetic etiology.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/10. Neonatal-onset panhypopituitarism in a girl with Brachmann-de lange syndrome.We report on a girl with recurrent hypoglycemia since age 2 days and severe impairment of physical and neurological development. Panhypopituitarism was recognized at age 5 months. The diagnosis of Brachmann-de lange syndrome (BDLS) was also made. Replacement therapy has avoided further episodes of hypoglycemia, improved growth, and allowed partial psychomotor catch-up. Though we are not aware of any other report of panhypopituitarism in patients with BDLS, we suggest that hormonal derangement may play a role in the manifestations of this syndrome.- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
3/10. Cornelia de lange syndrome associated with Wilms' tumour and infantile haemangioendothelioma of the liver: report of two autopsy cases.Two cases of Cornelia de lange syndrome associated with infantile haemangioendothelioma of the liver and Wilms' tumour are reported. The patients showed the characteristic facies of the Cornelia de lange syndrome, with synophrys, long curly eyelashes and small upturned nose, and physical features, including generalized hirsutism, monodactyly, syndactyly and clinodactyly. Post-mortem examination revealed annular pancreas, patency of the foramen ovale, duodenal atresia and evidence of cytomegalic infection. The cases are reported to document a possible association between malformations and neoplasms in this syndrome.- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
4/10. Normal language skills and normal intelligence in a child with de lange syndrome.The subject of this case report is a 2-year, 7-month-old girl with de lange syndrome, normal intelligence, and age-appropriate language skills. She demonstrated initial delays in gross motor skills and in receptive and expressive language but responded well to intensive speech and language intervention, as well as to physical therapy. This favorable outcome provides an important example of the beneficial effects of therapy, even for clients with conditions generally believed to have a poor prognosis.- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
5/10. Self-injury in the de lange syndrome.Self-injury, a common problem among retarded children is thought to be a behavioural manifestation of an organic disease and the usual treatment has been through drugs or physical restraint. Psychological treatment techniques were used to control such behaviour in a de lange syndrome patient. The treatment was effective in producing clinically significant control of self-injurious behaviour.- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
6/10. The Brachmann-de lange syndrome. A case report.The features of the Brachmann-de lange syndrome are characteristic enough for diagnosis to be made at birth. It is associated with severe physical and mental retardation and its aetiology is obscure, but the syndrome may be heterogenous. Several cases in siblings have been reported, but the case described here appears to be sporadic.- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
7/10. Coats' disease in a patient with Cornelia de lange syndrome.A 16-month-old boy had the mental and physical retardation, low-pitched cry, phocomelia with syndactyly, hirsutism, low-set ears, bushy eyebrows, elongated eyelashes, blepharoptosis, and strabismus characteristic of Cornelia de lange syndrome along with ophthalmoscopic findings characteristic of Coats' disease. cryotherapy made the abnormal telangiectatic vessels less prominent, but macular scarring produced poor visual acuity. Occlusion therapy was unsuccessful.- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
8/10. Mild Brachmann-de lange syndrome. Phenotypic and developmental characteristics of mildly affected individuals.Since 1981, we have identified 3 patients with mild Brachmann-de lange syndrome (BDLS) who have had subtle but definite manifestations of the syndrome and mild effects on growth and development. J.G. (B.D. 12/9/72) was first examined at 20 months. He had rather typical craniofacial findings and hirsutism, limitation of full supination of his arms, and brachyclinodactyly of the 5th fingers. IQ was estimated at 65. K.H. (B.D. 10/10/83) was first examined by us at age 9 months and was diagnosed as having "mild" BDLS. At age 5, K.H. has demonstrated relatively normal cognitive development (low average-average IQ of 74) with specific learning problems: weakness of visual-motor skills, delayed expressive language development, and articulation difficulties. At age 7, he was attending a regular 1st grade classroom, with some special education assistance. M.E. (B.D. 4/19/78) was diagnosed at age 10 years as having "mild" BDLS. His physical changes were more subtle than those of the 2 patients above. At age 10, M.E. was in the regular 4th grade classroom receiving special education support. His IQ was in the borderline-low-average range. He had strengths in rote verbal skills, with weaknesses in reading and writing. These 3 patients demonstrate mild BDLS in which characteristic manifestations of the syndrome, particularly craniofacial anomalies, are present and recognizable, but quite subtle, thus making the clinical diagnosis difficult. In addition, the milder physical phenotype is associated with milder cognitive and behavioral consequences.(ABSTRACT TRUNCATED AT 250 WORDS)- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
9/10. Cecal volvulus in the Cornelia de lange syndrome.Cornelia de lange syndrome is a congenital malformation characterized by severe growth failure, mental retardation, and multiple physical anomalies. A variety of gastrointestinal anomalies have been described, including malrotation, colonic duplication, and nonfixation of the colon. Two patients with Cornelia de lange syndrome presented to our institution with acute distal bowel obstruction. In both cases, emergency laparotomy showed cecal volvulus with necrosis of the terminal ileum, cecum, and ascending colon, secondary to nonfixation of the colon. Resection and an end-ileostomy were performed and later successfully reversed in both patients. intestinal obstruction is a known cause of death in these children, and nonfixation of the colon has been identified during autopsy. parents of children with Cornelia de lange syndrome should be counseled as to the possibility of bowel obstruction resulting from cecal volvulus. This awareness may lead to earlier identification and treatment of this potentially lethal gastrointestinal tract anomaly.- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
10/10. Gastrointestinal abnormalities: a significant cause of feeding difficulties and failure to thrive in Brachmann-de lange syndrome.Gastroesophageal abnormalities occur with increased frequency in patients with Brachmann-de lange syndrome (BDLS) and contribute to problems with feeding, emesis and failure to thrive. Comprehensive evaluation including longitudinal assessment of growth and development of 8 patients with BDLS was performed. Clinically significant feeding problems occurred in 6 of the 8 patients and the affected children were subsequently evaluated for gastrointestinal abnormalities. Findings in these patients included tracheal aspiration, esophageal dysmotility, gastroesophageal reflux, hiatal hernia, and esophagitis. Medical treatment was instituted where appropriate, and surgical treatment was performed if the problems did not resolve with medical treatment. Improvement in weight centiles occurred in all patients fed by nasogastric or feeding gastrostomy tube but only one patient appeared to experience increase in rate of linear growth. Careful monitoring of symptoms and growth parameters, and prompt institution of appropriate medical and surgical measures can improve the health and physical outcome of many patients with BDLS.- - - - - - - - - - ranking = 0.5keywords = physical (Clic here for more details about this article) |
| | Next -> |