Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Only eight cases involving deletions of chromosome 17 in the region q22-q24 have been reported previously. We describe an additional case, a 7-year-old boy with profound mental retardation, severe microcephaly, facial dysmorphism, symphalangism, contractures of large joints, hyperopia, strabismus, bilateral conductive hearing loss, genital abnormality, psoriasis vulgaris and tracheo-esophageal fistula. Analysis with whole-genome SNP genotyping assay detected a 5.9 Mb deletion in chromosome band 17q22-q23.2 with breakpoints between 48,200,000-48,300,000 bp and 54,200,000-54,300,000 bp (according to NCBI 36). The aberration was confirmed by real-time quantitative PCR analysis. Haploinsufficiency of NOG gene has been implicated in the development of conductive hearing loss, skeletal anomalies including symphalangism, contractures of joints, and hyperopia in our patient and may also contribute to the development of tracheo-esophageal fistula and/or esophageal atresia.
 ...
PMID:5.9 Mb microdeletion in chromosome band 17q22-q23.2 associated with tracheo-esophageal fistula and conductive hearing loss. 1898 45

Screening of the newborn begins in the case room with a search for gross congenital anomalies. Early detection of such anomalies may help to prevent serious consequences. Problems include spina bifida, cleft palate, orthopedic abnormalities, congenital heart disease, imperforate anus, and esophageal atresia. In the hospital nursery, tests for phenylketonuria, hypothyroidism, hearing impairment, strabismus, and congenital hip dislocation are performed. Studies indicate that five to six well-baby visits in the first two years of life provide adequate screening of healthy infants from intact homes. During well-baby visits the physician should monitor rate of growth and risk of child abuse, and take steps to prevent childhood injuries. Appropriate screening for these conditions in every Canadian child will improve the health of the population.
 ...
PMID:Preventive Health Examinations Part II. 2125 75