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Genital Malformations

The observed growth deficiencies are associated with an inability of the baby to catch up due to a slower than normal rate of development. Other infrequent outcomes include skeletal malformations such as deformed ribs and sternum, scoliosis, malformed digits, and microcephaly. Distinctive facial anomalies have been associated with a diagnosis of fetal alcohol syndrome small eye openings, epicanthal folds, failure of eyes to move in the same direction, short upturned nose, flat or absent groove between nose and upper lip, and thin upper lip. Visceral deformities may also be present heart defects, genital malformations, kidney, and urinary defects. [Pg.257]

An increased incidence of genital malformations has often been noted (298). [Pg.517]

The most common disorder of cholesterol biosynthesis, with an estimated incidence of 1 in 40,000 births, is Smith-Lemli-Opitz (RSH) syndrome [18, 19]. This autosomal recessive disorder is characterized clinically by distinctive facial anomalies, limb and genital malformations, and mental retarda-... [Pg.575]

A Wilms tumor can occur as part of complex disorder like the WAGR syndrome with Wilms tumor, aniridia, genital malformation and mental retardation. Responsible genes are in close vicinity on chromosome 11 in the region pl3 (WTl) and pl5.5 Mutation in the gene were found in... [Pg.77]

Pediatric radiologists will commonly come across mUllerian duct anomalies at two different stages of a girl s life. In neonates diagnostic requests encompass evaluation of a palpable abdominal mass and delineation of associated genital malformation in urogenital sinus anomalies. In adolescent girls delay in puberty or primary amenorrhea as well as pelvic... [Pg.146]

Metis JC, Kotkin L, Kasper S, Shyr Y, Adams MC, Brock JW (1997) Genital malformations and coexistent urinary tract or spinal anomalies in patients with imperforate anus. J Urol 158 1298-1300... [Pg.163]

In order to discuss the biological mechanisms involved in the aetiology of genital tract malformations, testicular cancer and lowered sperm counts, some knowledge of the processes involved in the differentiation and development of the male reproductive tract and determination of normal testicular function is required. An early embryo has the potential to develop either a male or a female... [Pg.88]

A separate, more complex group of anomalies is formed by the cloacal malformations, in which the urinary, genital and intestinal tracts converge to form a common channel with a single perineal orifice, i.e. the cloaca. These malformations are found exclusively in phenotypic females. [Pg.211]

Hale in 1935 found ectopic kidneys in the offspring of sows on a vitamin A-deficient diet, and Wilson and Warkany showed that considerable malformations of the urinary tract of the offspring could be obtained by placing the mother on this type of diet. In rats they found fused kidneys (see Fig. 15), stenosis of the uterus, homologous genital ducts, and failure... [Pg.50]

Subsequently, Warkany and his co-workers described a series of fetal abnormalities in the young of vitamin A-deficient rats. Wilson and Barch, for instance, have pointed out that malformations which involve the eye, the cardiovascular system, and the genito-urinary tract are commonly found in such progeny, and Wilson and Warkany have described keratinizing metaplasia of the genital tract in the 18-day fetal rats from A-deficient... [Pg.54]

Periodic screening US is reconunended in children with characteristics that are known to be associated with renal benign or malignant tumors (aniridia, hemihypertrophy, Drash syndrome, Beck-with-Wiedemann syndrome, tuberous sclerosis). In patients with malformation known to be associated with renal abnormality (the VATER association, imperforate anus, internal genital anomalies, Fanconi anemia), one postnatal US examination is recommended. However, abnormal external ears, unique umbilical artery, hypospadias, and undescended testis have not been proven to be associated with renal malformation and do not represent indications for renal screening (Currarino et al. 1993). [Pg.5]

Sourtzis S, Damry N, Janssen F et al (1994) Ureteral quadru-plication. Pediatr Radiol 24 604-605 Stocks A, Richards D, Frentzen B et al (1996) Correlation of prenatal pelvic antero-posterior diameter with outcome in infancy. JUrol 155 1050-1052 Tressider GC, Blandy JP, Murray RS (1970) Pyelo-pelvic and uretero-ureteric reflux. B J Urol 42 728-735 Trigaux JP, Van Beers B, Delchambre F (1991) Male genital tract malformations associated with ipsilateral renal agenesis. J Clin Ultrasound 19 3-10... [Pg.122]

Due to the close developmental relationship of the urinary and the genital tract, malformations frequently occur in both of these systems. Major renal anomalies are common in patients presenting with unilateral obstruction or agenesis of duplicated structures derived from the mullerian duct. [Pg.144]


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