De Lange syndrome (Brachmann-de Lange syndrome, Typus Amstelodamensis).
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De Lange Syndrome↗
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[General anesthesia for a patient with Cornelia de Lange syndrome].
Cornelia de Lange syndrome involves anomalies in cardio-vascular and musculo-skeletal systems, and mental retardation. In addition, a patient with this syndrome shows a peculiar look. A 22-year-old woman with Cornelia de Lange syndrome underwent general anesthesia twice. She has a small mouth, thin lips, a short neck, short limbs, and stiffness of the neck and some joints associated with slight mental retardation. She was scheduled for arthroscopy and then for rotational acetabular osteotomy and valgus osteotomy. The maximum distance between the upper and lower incisors was 34 mm, when she opened her mouth. Anesthesia was induced with sevoflurane increased slowly to 7.0% in oxygen 6 l.min-1 in both procedures. After the administration of 4% lidocaine 3.5 ml into the pharynx, orotracheal intubation was attempted, but was not successful. Then blind naso-tracheal intubation was performed successfully under spontaneous respiration under sevoflurane-oxygen inhalation. The induction of anesthesia with sevoflurane under spontaneous respiration was useful for blind naso-tracheal intubation in a case with difficult intubation such as in Cornelia de Lange syndrome.
Adult↗
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.
Cecal Diseases↗
Omphalocele in an infant with Cornelia de Lange syndrome.
Cornelia de Lange syndrome is a genetic condition characterized by a very distinctive facial appearance, hirsutism, limb anomalies, growth retardation and developmental delay. Most cases occur sporadically as the result of a new autosomal dominant mutation, but there are also reports of parent to child transmission. Associated clinical features that are less frequent are quite well known in this very well described genetic syndrome. Omphalocele does not appear to ever have been reported to be an associated feature. We report, for the first time, an omphalocele in a molecularly confirmed case of Cornelia de Lange syndrome.
Cell Cycle Proteins↗
Effects of social context on social interaction and self-injurious behavior in Cornelia de Lange syndrome.
Cornelia de Lange syndrome is reported to be associated with self-injurious behavior (SIB) and social avoidance. We used analog methodology to examine the effect of manipulating adult social contact on social communicative behaviors and SIB in 16 children with this syndrome. For 9 participants engagement behavior was related to levels of adult attention, and SIB showed significant variability across conditions for 3 participants. These findings indicate that SIB can be affected by environmental factors, even though it is thought to be part of the behavioral phenotype of Cornelia de Lange syndrome and suggest that individuals with this syndrome show socially motivated attention-soliciting behaviors. The implications for gene-environment interactions are discussed.
Child↗
Neuropsychological rehabilitation in a case of Cornelia de Lange syndrome.
Cornelia de Lange syndrome is a rare congenital disorder. Symptoms include a characteristic facial structure, pre- and post-natal growth deficiency, hypertrichosis, and visceral and cardiovascular anomalies. Behavioural problems and moderate to severe mental retardation are also present. In this paper, we report a mild case of Cornelia de Lange syndrome. The neuropsychological rehabilitation of this patient is also described. It was structured on the patient's specific areas of strength and weakness in order to facilitate the development of adaptive cognitive abilities. To maximise the learning potential of these children, we recommend specific interventions with a multidimensional neuropsychological approach, which considers developmental abilities and disabilities as related to the global reality of the child.
Child↗
Modified Orticochea pharyngoplasty for the correction of a feeding problem associated with Cornelia de Lange syndrome.
Cornelia de Lange syndrome is a collection of congenital anomalies. Its victims present considerable burdens in home care, not the least of which is feeding. The use of the modified Orticochea pharyngoplasty for correction of nasal food emission affords the opportunity for application of plastic surgical principles to seemingly unrelated clinical events. The salient features of the syndrome are presented, and the literature is reviewed.
Child, Preschool↗
Anesthetic management of a patient with Cornelia De Lange syndrome.
Cornelia de Lange syndrome presents various problems for anesthetic management, which include anatomical anomalies of face and extremities, cardiopulmonary and endocrine disorders, renal dysfunction, epileptic EEG waves, and mental retardation. The choice of anesthetic procedure must be carefully considered in view of these abnormalities. We administered halothane anesthesia to an 11-year-old child with this syndrome who needed dental treatment. Anesthesia and postoperative course were uneventful, with the exception of a transient bronchospasm-like attack during anesthesia.
Anesthesia, Dental↗
Cornelia de-Lange syndrome.
Cornelia De Lange syndrome is a relatively uncommon, multiple congenital anomaly / mental retardation disorder of unknown etiology. Its incidence has been reported to vary from 1 : 30,000 to 1 : 50,000 of live births, without any known racial predilection. However, it has been considered to be due to a new dominant mutation. Main clinical features of this syndrome include growth retardation, developmental delay, hirsutism, structural limb abnormalities, mental retardation and facial growth discrepancies. Main causes of death in such patients include pneumonia along with cardiac, respiratory and GI abnormalities.
Child↗
Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome.
Cornelia de Lange Syndrome (CdLS) is a complex developmental disorder consisting of characteristic facial features, limb abnormalities, hirsutism, ophthalmologic involvement, gastroesophageal dysfunction, hearing loss, as well as growth and neurodevelopmental retardation. Most cases of CdLS appear to be sporadic. Familial cases are rare and indicate autosomal dominant inheritance. Several individuals with CdLS have been reported with chromosomal abnormalities, suggesting candidate genomic regions within which the causative gene(s) may lie. A CdLS gene location (CDL1) has been assigned to 3q26.3 based on phenotypic overlap with the duplication 3q syndrome (critical region 3q26.2-q27) and the report of a CdLS individual with a balanced de novo t(3;17)(q26.3;q23.1). It has been postulated that a gene within the dup3q critical region results in the CdLS when deleted or mutated. We have performed a linkage analysis to the minimal critical region for the dup3q syndrome (that encompasses the translocation breakpoint) on chromosome 3q in 10 rare familial cases of CdLS. Nineteen markers spanning a region of approximately 40 Mb (37 cM) were used. Results of a multipoint linkage analysis demonstrated total lod-scores that were negative across the chromosome 3q26-q27 region. In 4/10 families, lod-scores were less than -2 in the 2 cM region encompassing the translocation, while in the remaining 6/10 families, lod-scores could not exclude linkage to this region. These studies indicate that in some multicase families, the disease gene does not map to the CDL1 region at 3q26.3.
Chromosomes, Human, Pair 3↗
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.
Cornelia de Lange syndrome (CdLS) is a multiple malformation disorder characterized by dysmorphic facial features, mental retardation, growth delay and limb reduction defects. We indentified and characterized a new gene, NIPBL, that is mutated in individuals with CdLS and determined its structure and the structures of mouse, rat and zebrafish homologs. We named its protein product delangin. Vertebrate delangins have substantial homology to orthologs in flies, worms, plants and fungi, including Scc2-type sister chromatid cohesion proteins, and D. melanogaster Nipped-B. We propose that perturbed delangin function may inappropriately activate DLX genes, thereby contributing to the proximodistal limb patterning defects in CdLS. Genome analyses typically identify individual delangin or Nipped-B-like orthologs in diploid animal and plant genomes. The evolution of an ancestral sister chromatid cohesion protein to acquire an additional role in developmental gene regulation suggests that there are parallels between CdLS and Roberts syndrome.
Animals↗
Neuropathological analysis of an adult case of the Cornelia de Lange syndrome.
Cornelia de Lange syndrome (CDLS) is a rare multisystemic malformative syndrome of uncertain etiology characterized by severe psychomotor and mental retardation. Here we report the neuropathological analysis of a 35-year-old patient who displayed the classical clinical symptomatology of CDLS. A congenital dysgenesis of the brain was evident including abnormal convolution patterns of the cerebral gyri, frontal lobe hypoplasia and focal lack of myelination in layers V and VI of the left temporal cortex. In addition, there were vascular scars in the CA2-3 region of the left hippocampus and in the right parietal cortex as well as a few neurofibrillary tangles in the CA fields of the hippocampus and in the entorhinal cortex. In contrast to previous reports, there were no midline cerebral dysgenesis and no ectopic neuron formations in the present case. Neuronal loss and gliosis were also absent in all cortical and subcortical areas. Our observations suggest that the main neurodevelopmental deficits in CDLS occur during the late phase of gestation. Conversely, early neurodegenerative changes are not characteristic of CDLS. In the light of previous studies in younger CDLS patients, the vascular and degenerative lesions observed in the present case may be secondary to his severe congenital heart abnormalities and self-injury behavior, respectively.
Adult↗
Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome.
Cornelia de Lange syndrome (CdLS) is a multisystem congenital anomaly disorder characterized by prenatal and postnatal growth retardation, developmental delay, distinctive facial dysmorphism, limb malformations, and multiple organ defects. Mutations in the NIPBL gene have been discovered recently as a major etiology for this syndrome, and were detected in 27-56% of patients. Two groups have found significant differences in the severity or penetrance of some phenotypes between mutation positive and mutation negative patients. Different clinical features have also been described among patients with missense versus truncating mutations. In this study, we identified 13 NIPBL mutations in 28 unrelated Polish CdLS patients (46.4%), 11 were novel. Mutation positive patients were more severely affected in comparison to mutation negative individuals with respect to weight, height, and mean head circumference at birth, facial dysmorphism and speech impairment. Analyses of combined data from this and the two previous studies revealed that the degree of growth, developmental delay and limb defects showed significant differences between patients with and without mutations and between patients with missense and truncating mutations, whereas only a portion of these features differed significantly in any individual study. Furthermore, bioinformatic analyses of the NIPBL protein revealed several novel domains, which may give further clues about potential functions of this protein.
Adolescent↗
Specific neurocognitive deficits in Cornelia de Lange syndrome.
Cornelia de Lange Syndrome (DLS) is a dysmorphogenic disorder typically associated with severe mental retardation. This report describes a rare case with normal-range verbal intelligence and specific cognitive deficits suggestive of a developmental visuospatial disorder. This was apparent in selective deficits in the ability to integrate visual percepts, copy spatial configurations, and manipulate representations of objects in space. Visual memory and psychomotor skills were also impaired. These deficits occurred within the context of normal language abilities and language-related academic achievement. The observed pattern of neuropsychologic impairment, in addition to aspects of socioemotional development, was similar to that seen in children with developmental right-hemisphere dysfunction. These findings suggest that the factors underlying DLS can be associated with fairly specific aberrations of cortical functioning.
Adolescent↗
Anaesthetic implications of Cornelia de Lange syndrome.
Cornelia de Lange syndrome is a congenital disease characterized basically by psychomotor retardation associated with a series of malformations (mainly skeletal craniofacial deformities together with gastrointestinal and cardiac malformations). We present the case of a patient who underwent trauma surgery, discuss the anaesthetic problems involved and their relationship to the malformations that constitute this syndrome.
Abnormalities, Multiple↗
Ophthalmologic findings in the Cornelia de Lange syndrome.
Cornelia de Lange Syndrome (CDLS) is characterized by mental retardation, growth retardation, skeletal anomalies, and a characteristic facies. We examined 22 children with CDLS to ascertain the relative frequencies of oculofacial and ophthalmologic abnormalities. We confirm prior reports of the frequent findings of brow hypertrichosis, synophrys, and long arcuate eyelashes. In addition we documented the association with ptosis, nystagmus, and high myopia. Contrary to previous reports, we did not find blue sclera or corneal, pupillary, or retinal disorders to be part of this syndrome. Hypertelorism and telecanthus were found, but they were dependent on the method of calculation. Two children had optic nerve pallor. We also report the new findings of poor macular reflex, chin lifts induced by ptosis, hypertropia, and nasolacrimal duct fistula.
Adolescent↗
A de novo t (X;8)(p11.2;q24.3) demonstrating Cornelia de Lange syndrome phenotype.
Cornelia de Lange syndrome is a rare syndrome of hitherto unknown etiology. We present a 9-months old female patient with de novo t (X;8) (p11.2;q24.3) and Cornelia de Lange Syndrome phenotype. De novo t (X;8)(p11.2;q24.3) was not reported so far in Cornelia de Lange syndrome.
Chromosomes, Human, Pair 8↗
Three-year-old girl with partial trisomy 4p and partial monosomy 8p with resemblance to Brachmann-de Lange syndrome--another locus for Brachmann-de Lange syndrome on 4p?
We describe a 3-year-old girl with partial trisomy 4p and partial monosomy 8p who had prenatal and postnatal growth retardation, mental retardation, no speech development, mild synophrys, hirsutism, apparently low-set ears, dysphonic hoarse voice, hyperactivity, and small hands with proximal placement of the thumbs. She had recurrent lung infections, due to earlier aspiration and immune deficiency (chronic granulomatous disease). Cytogenetic findings in this and other cases with suggestive phenotype may point to an additional locus for Brachmann-de Lange phenotype.
Child, Preschool↗