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1,133 Possible Causes for Congenital Heart Disease, Hypospadias

  • Smith Lemli Opitz Syndrome

    The malformations present were facial dysmorphisms, cleft palate, congenital heart disease, genitourinary abnormalities, and syndactyly of the toes.[] Smith-Lemli-Opitz syndrome is an autosomal recessive syndrome due to an inborn error of cholesterol metabolism and is characterized by developmental delay, facial anomalies, hypospadias[] Chest radiography is important in looking for congenital heart disease and/or congenital pulmonary abnormalities.[]

  • Down Syndrome

    heart disease and Down syndrome.[] Additional external findings included alopecia universalis, penoscrotal hypospadias, ostium secundum type of atrial septal defect, right ventricular cardiac dilatation, diffuse[] Among the men, the frequency of hypospadias and cryptorchidism was similar to that of the general population.[]

  • CHARGE Syndrome

    heart disease ) A : atresia (choanal) R : retardation (mental) G : genital hypoplasia E : ear abnormalities /deafness CHARGE syndrome is usually suspected at birth once multiple[] Abstract Previously, we reported on a family with a new syndrome of cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis.[] Microphallus, penile agenesis, hypospadias, chordee, cryptorchidism, bifid scrotum, atresia of uterus, cervix and vagina, hypoplastic labia and clitoris are reported genital[]

  • Mowat-Wilson Syndrome

    Patient 2 suffered from typical HSCR and underwent surgical treatment, but did not have congenital heart disease.[] Here we report that hypospadias is common in males with this syndrome.[] Congenital anomalies, including Hirschsprung disease (HSCR), congenital heart disease, hypospadias, genitourinary anomalies, agenesis of the corpus callosum, and short stature[]

  • Wolf Hirschhorn Syndrome

    heart disease.[] Opitz G/BBB syndrome (OS) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities[] CASE REPORT: This report describes a six-month-old girl with WHS with growth failure and typical craniofacial features who died of complex congenital heart disease.[]

  • Hypertelorism and Tetralogy of Fallot

    Hafner E, Scholler J, Schuchter K, Sterniste W, Philipp K (1998) Detection of fetal congenital heart disease in a low-risk population.[] Abstract We report on 3 brothers with hypertelorism, hypospadias, and tetralogy of Fallot. Parents are first cousins once removed; the father has apparent hypertelorism.[] Kuwait Farag and Teebi (1990) described three brothers suffering from hypertelorism, hypospadias, and tetralogy of Fallot.[]

  • Fraser Syndrome

    Cognitive deficits and congenital heart disease are common. Genetics Fraser syndrome 1 is caused by homozygous or heterozygous mutations in the FRAS1 gene (4q21.21).[] […] is indicated by four main clinical signs: the anomalies of the development of the genital organs (clitoris hypertrophy, vaginal atresia, bicornic uterus, cryptorchidism, hypospadias[] Knoers & Albertien M. van Eerde Nature Reviews Nephrology (2016) Genetic link between renal birth defects and congenital heart disease Jovenal T.[]

  • Ambiguous Genitalia

    heart disease, and normal chromosomes (46,XX).[] PURPOSE: We introduce the detubularized pedicled vaginal onlay flap urethroplasty for single stage repair in ambiguous genitalia with perineoscrotal hypospadias and accompanying[] CONCLUSIONS: We find a link between haploinsufficiency of the EFNB2 gene and the presence of ambiguous genitalia and hypospadia in patients with a 13q.33 deletion.[]

  • Ellis-Van Creveld Syndrome

    In 1940 Ellis and van Creveld (2) described 2 more patients with similar congenital anomalies who, in addition, had congenital heart disease.[] Other uncommon anomalies may include urinary tract anomalies, congenital cataracts, cryptorchidism and hypospadias.[] heart disease.[]

  • Patau Syndrome

    Most infants with trisomy 13 have congenital heart disease.[] Malrotation : Dysfunction of the rotation of the intestine during the embryological development Hyperplasia of the biliary tracts Malformations of the genito-urinary tract Hypospadia[] heart disease, blindness, severe mental retardation may complicate survival Please rate topic.[]

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