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    ABSTRACT: 1 Dr. Sami Ulus Çocuk Sal ve Hastalklar Eitim ve Aratrma Hastanesi, Pediatri Klinii, ANKARA ÖZET Cornelia de Lange sendromu, karakteristik dismorfik yüz bulgular, üst ekstremite malformasyonlar, hirsutizm, kalp defektleri, gelime gerilii, zeka gerilii, göz ve genitoüriner anomaliler, iitme kayb ve gastroözofagial disfonksiyon ile karakterize nadir görülen geliimsel bir bozukluktur. Prevalans, 1/10.000 ie 1/50.000 arasnda deimekte ve rk fark göstermemektedir. Tekrarlayan alt solunum yolu enfeksiyonu ve gelime gerilii nedeniyle kliniimize bavuran be aylk erkek hasta ve büyüme gerilii nedeniyle kliniimize bavuran üç aylk kz hastaya Cornelia de Lange sendromu tans konuldu ve nadir görülmesi nedeniyle sunuldu. ABSTRACT Cornelia de Lange Syndrome: A report of two cases Cornelia de Lange syndrome is a rarely seen developmental disorder characterized by characteristic dysmorphic facial features, upper-extremity malformations, hirsutism, cardiac defects, failure to thrive, mental retardation, ophthalmologic and genitourinary anomalies, hearing loss, and gastroesophageal dysfunction. Its prevalance has been reported to vary from 1:10.000 to 1:50.000, without any known racial predilection. We presented a 5-month-old male patient who admitted to our clinic because of recurrent lower respiratory tract infections and failure to thrive and a 3-month-old female patient who admitted to our clinic because of growth failure diagnosed as Cornelia de Lange syndrome and reported due to its rarity.
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    ABSTRACT: Cornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder characterized by growth retardation, intellectual disability, upper limb abnormalities, hirsutism, and characteristic facial features. In this study we explored the occurrence of intragenic NIPBL copy number variations (CNVs) in a cohort of 510 NIPBL sequence-negative patients with suspected CdLS. Copy number analysis was performed by custom exon-targeted oligonucleotide array-comparative genomic hybridization and/or MLPA. Whole-genome SNP array was used to further characterize rearrangements extending beyond the NIPBL gene. We identified NIPBL CNVs in 13 patients (2.5%) including one intragenic duplication and a deletion in mosaic state. Breakpoint sequences in two patients provided further evidence of a microhomology-mediated replicative mechanism as a potential predominant contributor to CNVs in NIPBL. Patients for whom clinical information was available share classical CdLS features including craniofacial and limb defects. Our experience in studying the frequency of NIBPL CNVs in the largest series of patients to date widens the mutational spectrum of NIPBL and emphasizes the clinical utility of performing NIPBL deletion/duplication analysis in patients with CdLS.
    Molecular genetics & genomic medicine. 03/2014; 2(2):115-23.
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    ABSTRACT: Objective Cornelia de Lange Syndrome (CdLS) is a rare multisystem disorder in which hearing loss (HL) has been reported. However, no data are available concerning the association between audiological findings, clinical severity score and genotype. Methods The study involved 44 pediatric patients aged 1-18 years with a confirmed diagnosis of CdLS, all of whom underwent a full otolaryngological and audiological examination. The presence of NIPBL and SMC1 mutations was also evaluated. Results According to the severity of clinical phenotypes, 12 (27.3%) children were mild, 15 (34.1%) were moderate and 17 (38.6%) were severe. Thirty-eight children (86%) had OME. Eight children had normal hearing, including one (12.5%) with a severe phenotype. Bilateral sensorineural hearing loss (SNHL) was diagnosed in 10 children (22.7%): the degree of HL was severe in 8 (80%), all with a severe phenotype. Conductive hearing loss (CHL) was present in 26 patients (59.1%), of whom 8 (30.8%) had a severe phenotype. A severe phenotype was more prevalent among the patients with moderate to severe HL (10/16, 62.5%) than among those with slight/mild HL or normal hearing (7/28, 25.0% p = 0.013). NIPBL mutations were detected in 22 patients (50%): 13 (59.1%) with truncating mutations, four (18.2%) with missense mutations, and five (22.7%) with splicing mutations. The frequency of NIPBL truncating mutations was similar in the children with SNHL and those with CHL, whereas this kind of mutation was not found in children with normal hearing. Conclusion Together with SNHL, CHL is an important cause of HL in children with CdLS, and can be associated with a severe phenotype. Moreover, CHL can be associated with NIPBL mutations, particularly truncating mutations. These results highlight the importance of the early identification of audiological problems in children with CdLS and their precise genetic characterisation.
    International journal of pediatric otorhinolaryngology 07/2014; · 0.85 Impact Factor

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May 27, 2014