| A male infant, the first-born of twins, with features of Cornealia de lange syndrome is described. His normal twin was discordnat for 3 of the 14 blood loci tested. chromosomes from the affected infant appeared normal. Though the aetiological basis for the Cornealia de lange syndrome remains obscure, most authorities accept genetic rather than environmental causation. The present findings of discordance for Cornelia de lange syndrome in twins support this view but do not clarify the mode of inheritance. ( info) |
| The neuropathological findings in a neonatal case of Cornelia de lange syndrome (CDLS) were described. Two different types of lesions were revealed in the affected brain. The first type was classified as perinatal hypoxic-ischemic brain damage, associated with cyanotic congenital heart anomalies: subarachnoideal, intraventricular, and parenchymal hemorrhage, and multiple necrosis in the cerebral white matter, basal ganglia, internal capsule, thalamus, mammillary bodies and dentate nucleus. This type may be non-specific and common in premature babies dying soon after birth. On the other hand, the second type was classified as congenital dysgenesis of the brain: microbrachycephaly, immature or simple convolution pattern of the cerebral gyri, thickened leptomeninges, persistent subpial granule cells, hypoplasia of the anterior thalamic nuclei, neurohypophysis, lateral geniculate body, cerebral peduncle, ventral pons and cerebellar internal granular layer, and heterotopic cell nests in the cerebellar white matter. This type may indicate that the maturation of the brain can be disturbed in the fetal period, particularly in the mid-gestational period. In conclusion, pathognomonic or specific changes of CDLS might be absent in the brain. However, congenital dysgenesis of the brain, especially that found in the diencephalon and the cortico-ponto-cerebellar system, may constitute morphologic evidence explaining the severe growth retardation and neurological abnormalities in CDLS. ( info) |
3/105. de lange syndrome. Clinical, dermatoglyphic and chromosomal findings in nine cases. Nine cases of the de lange syndrome are reviewed. Our findings show that the facial characteristics in the present series and in previously reported cases are remarkably similar. Dermatoglyphically, we have documented an increased incidence of tibial loops on the hallucal area and increased incidence of single flexion creases of the digits from this study series. Our study also supports the previous authors who have recorded an increased incidence in radial loops on the second and third digits and increased incidence of simian lines. We have not been able to document a consistent chromosomal defect. ( info) |
| A pair of female monozygotic twins, one of them affected by the de lange syndrome is described for the first time. Monozygosity was established by most of the accepted standards in use at the present time. Speculation is offered as to whether the discordance in the manifestation of the syndrome provides any clues for understanding its controversial pathogenesis. In this regard two genetic mechanisms are discussed. One is the hypothesis of a chromosomal or mitotic instability. The other possibility would be a postzygotic new mutation of a gene or large effect. ( info) |
5/105. Brachmann-de lange syndrome: a cause of early symmetric fetal growth delay. Brachmann-de lange syndrome is characterized by pre- and postnatal growth retardation, microbrachycephaly, hirsutism, various visceral and limb anomalies and a typical face. A sonographic prenatal diagnosis at mid-trimester is reported in a case of severe, symmetrical fetal growth delay at 20 weeks gestation, with a thickened skin on the forehead, a small nose and a marked depressed nasal bridge, a long philtrum, micrognathia and a persistently flexed right forearm, with a single bone associated to oligodactyly. Due to the severe mental impairment with a commonly estimated intelligence quotient under 60, the pregnancy was terminated after parental consent. ( info) |
6/105. 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. ( info) |
7/105. Prenatal findings in Brachmann-de lange syndrome. We present a case of Brachmann-de lange syndrome, in which prenatal ultrasonographic evaluation demonstrated increased nuchal translucency, early onset of intrauterine growth retardation, and limb abnormalities in the first, second, and third trimester, respectively. ( info) |
| Barrett's esophagus, a premalignant condition, is recognized as stratified squamous epithelium of the esophagus substituted by columnar epithelium. The risk factors for development of Barrett's esophagus include frequent gastroesophageal reflux, esophageal stricture, male sex and mental retardation, but there is no report of Barrett's esophagus in children with de lange syndrome. We report a 7-year-old boy who was diagnosed as de lange syndrome shortly after birth and had gastroesophageal reflux since early infancy. Upper gastrointestinal endoscopic examination revealed a cauliflower-like mass and a pink-red velvety mass over the lower third of the esophagus. biopsy showed goblet cells metaplasia, confirming Barrett's esophagus. We suggest surveillance of Barrett's esophagus could be done ahead of schedule in children with long-standing gastroesophageal reflux or with de lange syndrome. ( info) |
9/105. 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. ( info) |
| OBJECTIVE: This study aimed to demonstrate the temporal bone histopathology of Cornelia de lange syndrome. STUDY DESIGN: Histopathologic examination of an infant with this syndrome. SETTING: This study was performed at the temporal bone laboratory. Fukushima Medical University, Fukushima. RESULTS: The authors describe interesting temporal bone findings of this syndrome: anomalies of the middle and inner ear and the facial nerves. CONCLUSIONS: This is the second case report describing the histologic findings of the temporal bone in Cornelia de lange syndrome in the English literature. ( info) |