Disease relevance of De Lange Syndrome

• Chlorpromazine and fluphenazine decanoate were employed to treat aggressive behavior and emesis in a 22-year-old patient with Cornelia de Lange syndrome [1].
• Microcephalic dwarfism with associated low amniotic fluid 5-hydroxyindole-3-acetic acid (5HIAA). Report of a case of Cornelia de Lange syndrome [2].
• 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 [3].
• METHODS: We experienced a case of an 18-year-old female with Cornelia de Lange syndrome showing superficial keratitis with entropion, ptosis, high myopia, lacrimal cutaneous fistula and characteristic facial appearance [4].

High impact information on De Lange Syndrome

• X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations [5].
• NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations [6].
• Genomic organisation of the human chordin gene and mutation screening of candidate Cornelia de Lange syndrome genes [7].
• This case suggests an interrelationship between Cornelia de Lange syndrome and midline development of the brain [8].
• Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome [9].

Chemical compound and disease context of De Lange Syndrome

• A 3.5-year-old child with Cornelia de Lange syndrome presenting for orchidopexy and herniotomy received general anaesthesia which was supplemented by a caudal injection of bupivacaine [10].
• Behavioural dimensions of the de Lange syndrome: attribution of mystique and a question of cause and effect [11].
• Cornelia de Lange's syndrome. Report of a case associating pulmonary hypoplasia and elevated thyroxine-binding globulin [12].

Biological context of 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 [13].
• Second-trimester pregnancy associated plasma protein-A levels are reduced in Cornelia de Lange syndrome pregnancies [14].
• Low first-trimester pregnancy-associated plasma protein-A and Cornelia de Lange syndrome [15].
• NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome [16].

Anatomical context of De Lange Syndrome

• We report on 4 individuals (3 sibs and their father) with a syndrome of growth retardation, microcephaly, minor facial anomalies reminiscent of a mild Brachmann-de Lange syndrome (BDLS), severe metatarsus adductus, developmental delay, and unusual dermatoglyphics [17].
• Fetal diaphragmatic hernia and upper limb anomalies suggest Brachmann-de Lange syndrome [13].

Gene context of De Lange Syndrome

• Furthermore, the complete absence of PAPPA in pregnancies associated with Cornelia de Lange syndrome (CL) has suggested a causal connection between PAPPA and the development of CL [18].
• Two children with the Brachmann-de Lange syndrome and severe gastroesophageal reflux are described [19].
• We analyzed the metacarpophalangeal pattern profile (MCPP) of 19 individuals with Brachmann-de Lange syndrome (BDLS) and calculated a mean syndrome profile [20].
• Neonatal-onset panhypopituitarism in a girl with Brachmann-De Lange syndrome [21].
• Our results demonstrate a high prevalence of peripheral sensorineural hearing loss in Cornelia de Lange syndrome, but brainstem immaturity was not ruled out in 2 cases [22].

Analytical, diagnostic and therapeutic context of De Lange Syndrome

• Prenatal diagnosis of congenital diaphragmatic hernia not amenable to prenatal or neonatal repair: Brachmann-de Lange syndrome [23].

References