Renal anomalies are frequently detected on the routine second trimester scan offered to all pregnant women in the UK. These anomalies may be isolated but can also be associated with other congenital anomalies. Many combinations of ultrasound scan findings constitute recognised genetic entities. Knowledge of these conditions is essential for adequate management of the pregnancy and subsequent balanced parental counselling. This short review discusses the common genetic syndromes associated with the renal abnormalities identified on the antenatal ultrasound scan, and also provides an overview of renal symptoms in chromosome imbalances and after teratogenic influences.
Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients
Cystic hygroma and congenital diaphragmatic hernia: early prenatal sonographic evaluation of Fryns' syndrome
Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis
Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia
Terminal deletion of the long arm of chromosome 2 in a premature infant with karyotype: 46,XY,del(2)(q37)
Paternal duplication of chromosome 5q11.2-5q14 in a male born with craniostenosis, ear tags, kidney dysplasia and several other anomalies
Exstrophy of the cloaca in a 47,XXX child: review of genitourinary malformations in triple-X patients
First trimester prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with ultrasound
An atypical case suggesting the possibility of overlap between Malpuech and Juberg-Hayward syndromes
Paraneoplastic syndromes in neuroendocrine neoplasms of the head and neck: have they an impact on prognosis?
Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?
Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes
Fetal bilateral renal agenesis, phocomelia, and single umbilical artery associated with cocaine abuse in early pregnancy
Cerebellum-small brain but large confusion: a review of selected cerebellar malformations and disruptions
Study of 290 cases of polyhydramnios and congenital malformations in a series of 225,669 consecutive births
Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome
Increased first-trimester fetal nuchal translucency thickness in association with chondroectodermal dysplasia (Ellis-Van Creveld syndrome)
Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.
Beckwith-Wiedemann syndrome is an imprinting disorder characterized by overgrowth, congenital malformations and predisposition to tumors. Discover the latest research on Beckwith-Wiedemann Syndrome here.