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Another case had similar ear abnormality with his grandfather.
One of the aims of the present study was to evaluate the efficacy of prenatal ultrasound screening for fetal ear abnormality.
CHARGE syndrome was initially considered a likely diagnosis in our patient because of the features of coloboma, growth and development delay, and ear abnormality.
Meanwhile, studies have shown that the use of ultrasonography to guide first-trimester pregnancy terminations has obviated the need for sharp curettage and to screen for external ear abnormality in the fetuses [ 21, 22].
Lisenka Vissers (Radboud University Nijmegen Medical Centre) highlighted two characteristic examples of disease-causing gene identification through deletion mapping strategies, for CHARGE syndrome (coloboma, heart malformation, atresia of choanae, retardation of growth and development, genital hypoplasia, ear abnormality including deafness) and 9q34 microdeletion syndrome.
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Four of the children also showed spinal cord thinning, while some of the children also showed eye or ear abnormalities.
The Chinnicis' daughter, Destiny, was born with Charge syndrome, a condition marked by a cleft lip and by cranial, nerve, heart, nose and ear abnormalities.
Speculation about an abnormality in the shape of his ear has even led some to suggest that kidney failure was likely, since urinary tract deformities are sometimes related to ear abnormalities.
Patients with CHARGE syndrome (where CHARGE stands for coloboma of the iris or retina, heart defects or cardiac malformations, atresia/stenosis of the choanae, retardation of growth and development, genital anomalies, and ear abnormalities) present several orofacial anomalies.
To report a patient with CHARGE association (coloboma, heart disease, choanal atresia, growth retardation, genital hypoplasia, and ear abnormalities) who developed a choroidal neovascular membrane in association with an optic nerve coloboma.
To evaluate whether central adrenal insufficiency (CAI) is present in CHARGE (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital hypoplasia, and Ear abnormalities, including deafness) syndrome, a complex malformation disorder that includes central endocrine dysfunction.
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