نتایج جستجو برای: genital malformation
تعداد نتایج: 36349 فیلتر نتایج به سال:
External genitalia are found in each of the major clades of amniotes. The phallus is an intromittent organ that functions to deliver sperm into the female reproductive tract for internal fertilization. The cellular and molecular genetic mechanisms of external genital development have begun to be elucidated from studies of the mouse genital tubercle, an embryonic appendage adjacent to the cloaca...
Malformation of the urogenital tract represents a considerable paediatric burden, with many defects affecting the lower urinary tract (LUT), genital tubercle and associated structures. Understanding the molecular basis of such defects frequently draws on murine models. However, human anatomical terms do not always superimpose on the mouse, and the lack of accurate and standardised nomenclature ...
BACKGROUND Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a malformation of the female genital tract (vaginal aplasia, rudimentary uterus, normal fallopian tubes and high ovaries). The incidence is one in 4000 female newborns. The aim of the present study was to record genital and associated malformations among siblings and relatives of MRKH patients in order to draw possible conclusions reg...
Oesophageal atresia and/or tracheo-oesophageal fistula are relatively common malformations occurring in approximately 1 in 3500 births. In around half of the cases (syndromic oesophageal atresia), there are associated anomalies, with cardiac malformations being the most common. In the remainder (non-syndromic cases), oesophageal atresia/tracheo-oesophageal fistula occur in isolation. Data from ...
We report on three sibs born to healthy parents, one livebirth and two terminated pregnancies, presenting with a malformation complex characterised by conotruncal heart defect (CTHD), microphthalmia, genital anomalies, and facial dysmorphism. The recurrence of the association of CTHD, particularly truncus arteriosus, and microphthalmia in sibs has previously been reported in rare instances, but...
BACKGROUND Offspring of women with epilepsy may have an increased risk for congenital malformations, probably attributable to maternal antiepileptic medication. We conducted this population-based study to obtain valid and accurate estimates on major congenital malformations in the offspring of women with epilepsy, based on a large and representative patient cohort. METHODS We identified all w...
This study aimed to determine the possible etiology ot ambiguous genitalia in 41 newborn intants at a referral hospital in Hofuf city, Saudi Arabia. In 46,XX karyotype patients (n 14), congenital adrenal hyperplasia and general malformation disorder were the most common causes of genital ambiguity, while in 46,XY karyotype patients (n=18), testosterone pathway biosynthetic defect was the most c...
CARDIOVASCULAR DISORDERS cardiac congenital defects cardiopathy, congenital DERMATOLOGICAL DISORDERS cutis, dysplastic, not including ectodermal dysplasia cutis, aplasia, skin atrophy GENITAL DISORDERS genital dysfunctions hypogenitalism, hypogonadism; small testes, microorchidism, hypoplastic scrotum male genitalia, modifications not including ambiguity cryptorchidism JOINT DISORDERS joint, mo...
METHODS The authors present a series of 9 patients collected from 4 centers with translevator anal anomalies, each of which has a fistula tracking forward deep to the scrotum and opening at the peno-scrotal junction. Whereas some would appear to be covered ani in type, others are deeper and would appear to fit in with an intermediate type of classification emphasizing the idea of a "spectrum" o...
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