A MEN2A family with two asymptomatic carriers affected by unilateral renal agenesis
نویسندگان
چکیده
منابع مشابه
Meckel-Gruber Syndrome with unilateral renal agenesis.
Meckel-Gruber Syndrome (MKS) is an autosomal recessive disorder, characterized by a combination of central nervous system malformation (occipital encephalocele), post-axial polydactyly, and enlarged polycystic kidney dysplasia. With a recurrence risk of 25% this lethal syndrome can be detected in early screening by ultrasound. However, to the authors' knowledge, association of MKS with unilater...
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OBJECTIVE To evaluate the relationship between unilateral renal agenesis and auditory abnormality, and to determine the clinical spectrum of hearing impairment in such patients. METHODS Seventy-five children with unilateral renal agenesis underwent auditory examinations. The subjects comprised 35 males and 40 females. Fourteen females had mullerian abnormalities. Another 75 schoolchildren wit...
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Sir, T triad of short neck, low posterior hairline and severe restriction of cervical motion is a classic definition of KlippelFeil syndrome. Klippel-Feil syndrome (KFS) is characterized by congenital fusion of two or more cervical vertebrae and is believed to result from faulty segmentation along the embryo’s developing axis during the second to eighth week of gestation. This is commonly assoc...
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Congenital anomalies of the spine may occur with malformations of the central nervous, cardiovascular, gastrointestinal, respiratory, and genitourinary systems. This is a case of myelomeningocele with unilateral right renal agenesis in a newborn. The patient suffered complications of cerebrospinal fluid leak and meningitis, but was successfully treated and discharged on day 86. In this case, un...
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ژورنال
عنوان ژورنال: Endocrine Journal
سال: 2014
ISSN: 0918-8959,1348-4540
DOI: 10.1507/endocrj.ej13-0335