BACKGROUND Testicular germ cell tumor (TGCT) is the most common malignancy in young men. Familial clustering, epidemiologic evidence of increased risk with family or personal history, and the association of TGCT with genitourinary (GU) tract anomalies have suggested an underlying genetic predisposition. Linkage data have not identified a rare, highly-penetrant, single gene in familial TGCT (FTG...

BACKGROUND Congenital anomalies and their primary prevention are a crucial public health issue. This work aimed to estimate the prevalence of congenital anomalies in Brindisi, a city in southeastern Italy at high risk of environmental crisis. METHODS This research concerned newborns up to 28 days of age, born between 2001 and 2010 to mothers resident in Brindisi and discharged with a diagnosi...

BACKGROUND There are few studies in the literature performed in human fetuses evaluating the incidence of genitourinary anomalies. AIMS Analyze the incidence of congenital urogenital malformations in human male fetuses. STUDY DESIGNS AND SUBJECTS: We analyzed 166 human male fetuses well preserved. The gestational age was determined in weeks post conception (WPC) according to the foot length c...

Congenital anomaly of the inferior vena cava (IVC) is a well described phenomenon [1,2]. These anomalies include complete absence, partial absence or duplication of the IVC [3]. Such anomalies of the IVC are seen more frequently in those with other congenital cardiac anomalies (0.6%–2%) [4]. This congenital condition can be discovered incidentally, or due to symptoms of associated congenital he...

BACKGROUND It has been hypothesised that cerebral palsy (CP) and other congenital anomalies are attributable to feto-fetal transfusion problems in a monochorionic multiple gestation. Thus more than one organ could be compromised leading to the coexistence of two or more anomalies in a fetus. Such anomalies in a singleton birth may be attributable to early demise of the co-conceptus as a vanishi...

Evidence-Based Answer All newborns should be screened for hearing loss, whether or not they have preauricular skin lesions. Newborns with these anomalies may be at increased risk of hearing impairment. (Strength of Recommendation [SOR]: C, based on small observational studies and expert opinion.) Although there is a reported association between renal tract abnormalities and isolated preauricula...

Congenital diaphragmatic hernia is a common congenital anomaly of uncertain etiology. Its association with multiple congenital anomalies in various organs is well recognized and antenatal radiological evidence of congenital diaphragmatic hernia warrants thorough evaluation to detect other anomalies, some of which can be life threatening. Rarely, heterotopic hepatic tissue is identified in the h...

A 920-g male infant born with features of Potter's syndrome had multiple ocular anomalies. Ocular abnormalities included absence of keratocytes in the inner central corneal stroma, cataract with retention of cell nuclei in the nucleus of the lens, hypoplasia of the ganglion cell and nerve fiber layers of the retina, and absence of nerve bundles in the optic nerve. Other ocular findings includin...

The NONO gene encodes a nuclear protein involved in transcriptional regulation, RNA synthesis and DNA repair. Hemizygous loss-of function, de novo or maternally inherited variants have been associated with an X-linked syndromic intellectual developmental disorder-34 (OMIM # 300967), characterized by delay, disability, hypotonia, macrocephaly, elongated face, structural abnormalities of corpus c...