A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome.

An eighteen month-old infant with Cornelia de Lange syndrome: a case report

Cornelia de Lange syndrome (CdLS) is an uncommon multiple congenital anomaly with unknown cause and recurrent risk and may be the result of an inheritance metabolic error. In classical form of the syndrome there is a recognizable facial appearance at birth although in children with mild disease this may be less obvious at birth but become more noticeable over the first three years of life. In t...

Cornelia De Lange Syndrome and Cochlear Implantation

Introduction: Literature regarding the different degrees of hearing loss in patients with Cornelia de Lange syndrome (CDLS) reports that half of the affected patients exhibit severe to profound sensorineural hearing loss. We present the first pre-school child with CDLS who underwent cochlear implantation for congenital profound sensorineural hearing loss.   Case Report: A 3-year-old boy with CD...

سندرم Cornelia de Lange و معرفی یک مورد شیرخوار مبتلا

Cornelia De Lange is a rare congenital syndrome with multiple anomalies including Facial dysmorphism, hirsutism, height, weight and head circumflex retardations, cardiac defects, gastrointestinal and renal defects and extremity anomaly. Prevalence of this syndrome is 1 to 30000 or 1 to 50000. The diagnosis of this syndrome is based on clinical evidence. Genetic foundation is known to have two...

گزارش یک مورد سندرم کورنلیا دلانجه

    Introduction: Cornelia de lange syndrome(CDLS) is a rare syndrome which is characterized by multiple congenital anomalies, mental retardation, characteristic facial appearance, developmental delay, skeletal malformation, hirsutism, and various ophthalmologic problems. The diagnosis of this syndrome is clinical. Case Report: The patient of the present case report was an infant with cornelia ...

A de novo Reciprocal X; 9 Translocation in A Patient with Premature Ovarian Failure