REPAIRtoire - a database of DNA repair pathways

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(OMIM ID: #610758 )

Known also as: None

Jaspers et al. (2007) described a patient with COFS who was the child of nonconsanguineous Italian white parents. The patient was born after a 37-week pregnancy complicated by intrauterine growth retardation. Amniocyte analysis did not reveal any karyotypic abnormality. At birth, the patient's weight, length, and occipitofrontal circumference were below the 3rd percentile. The infant had microcephaly with premature closure of fontanels, bilateral microphthalmia, blepharophimosis, high nasal bridge, short philtrum, micrognathia, low-set and posteriorly rotated ears, arthrogryposis with rocker-bottom feet, flexion contractures of the hands, and bilateral congenital hip dislocation. On x-rays, there was no evidence for spine abnormalities. Nuclear magnetic resonance revealed a simplified gyral pattern and cerebellar hypoplasia. There was mild hypoplasia of the kidneys, with normal structure and function. Echography did not reveal any congenital heart defects. Although other dysmorphology syndromes, such as Warburg Micro syndrome and Cockayne syndrome , were considered, COFS was the preferred diagnosis because of the absence of genital abnormalities and retinopathy. The infant failed to thrive, was tube fed, and did not pass any developmental milestone. Respiratory failure due to bilateral pneumonia was the cause of death at age 14 months. His weight was 4.5 kg and occipital frontal circumference was 38 cm at the time of death.

DNA repair proteins related with CEREBROOCULOFACIOSKELETAL SYNDROME 4 (#610758 ) disease:
Last modification of this entry: Oct. 11, 2010.

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