Hereditary renal adysplasia, pulmonary hypoplasia and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a case report
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چکیده
منابع مشابه
Hereditary renal adysplasia, pulmonary hypoplasia and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a case report
BACKGROUND Hereditary renal adysplasia is an autosomal dominant trait with incomplete penetrance and variable expression that is usually associated with malformative combinations (including Müllerian anomalies) affecting different mesodermal organs such as the heart, lung, and urogenital system. CASE REPORT A case showing pulmonary hypoplasia, hip dysplasia, hereditary renal adysplasia, and M...
متن کاملMayer-Rokitansky-Küster-Hauser (MRKH) syndrome
The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype. It affects at least 1 out of 4500 women. MRKH may be isolated (type I) but it is more frequently associated with renal, vertebral, and, to a lesser ext...
متن کاملGenetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also referred to as Müllerian agenesis, is the second most common cause of primary amenorrhea. It is characterized by congenital absence of the uterus, cervix, and the upper part of the vagina in otherwise phenotypically normal 46,XX females. MRKH syndrome has an incidence of about 1 in 4,500-5,000 newborn females and it is generally divided into ...
متن کامل[Mayer-Rokitansky-Küster-Hauser syndrome: A case report].
disorder. At clinical examination, the patient demonstrated a development of secondary sexual characteristics compatible with her chronological age. At gynecological examination a grooved urethra with elevated edges was observed. Speculum examination was not performed. Transabdominal ultrasonography did not demonstrate the presence of uterus and ovaries in their habitual site, but the study was...
متن کاملDiffuse pulmonary lymphangiomatosis with mediastinal affectation.
1. Morcel K, Camborieux L. Programmede recherches sur les aplasiesmüllériennes (PRAM)andGuerrierD.Mayer–Rokitansky–Küster–Hauser syndrome.Orphanet J Rare Dis. 2007;2:13. 2. Strübbe EH, Cremers CW, Wilemsen WN, Rolland R, Thijn CJ. The Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome without and with associated features: two separate entities? Clin Dysmorphol. 1994;3:192–9. 3. Vasquez JC, De la Ro...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2010
ISSN: 1750-1172
DOI: 10.1186/1750-1172-5-6