BACKGROUND Over a million children have been born from assisted conception worldwide. Newer techniques being introduced appear less and less 'natural', such as intracytoplasmic sperm injection (ICSI), but there is little information on these children beyond the neonatal period. METHODS 540 ICSI conceived 5-year-old children from five European countries were comprehensively assessed, along wit...

BACKGROUND The rearrangements of the 22q11.2 chromosomal region, most frequently deletions and duplications, have been known to be responsible for multiple congenital anomaly disorders. These rearrangements are implicated in syndromes that have some phenotypic resemblances. While the 22q11.2 deletion, also known as DiGeorge/Velocardiofacial syndrome, has common features that include cardiac abn...

Mice with targeted disruptions in retinoic acid receptor genes have been generated to assess the role of nuclear receptors as transducers of the retinoid signal during vertebrate development. Mice with mutations that disrupt all isoforms of the RARa, RARfl and RAR), genes as well as for the individual RARal, RARfl2 and RARe2 have been described. By breeding the RARal and RARfl strains together ...

It is inconclusive nowadays for which type of congenital malformations(CMs) is increased in singleton pregnancies following after in vitro fertilization(IVF)/intracytoplasmic sperm injection(ICSI) compared with those after spontaneous conception; furthermore, a complete overview is missing. We conducted a meta-analysis of cohort studies to assess the risk of specific CMs associated with IVF/ICS...

INTRODUCTION Congenital nasal pyriform aperture stenosis and solitary median maxillary central incisor are uncommon anomalies and are associated with further malformations. Solitary median maxillary central incisor itself has initially no impact on a child's health, but congenital nasal pyriform aperture stenosis is a potentially life-threatening condition. CASE PRESENTATION A Caucasian baby ...

The potential maternal, embryotoxic, and teratogenic parameters of 2,4-dichlorophenol (2,4-DCP) were evaluated in Fischer 344 rats following oral administration in corn oil on Days 6 through 15 of gestation. Dose levels were 0, 200, 375, and 750 mg/kg/day. Females were sacrificed on Gestation Day 20 and cesarean sections performed. The fetuses were weighed, sexed, measured for crown-rump length...

BACKGROUND Hemangioma is the most common tumor of neonatal period and it is almost always appeared by the end of the first week of life and can be found mostly in head and neck area. This study evaluated the synergistic effect of bleomycin, triamcinolone and epinephrine in treatment of hemangioma and arte-riovenous malformations. METHODS In this multicenter study, a combination of bleomycin,...

The authors used high-resolution computed tomography (HRCT) for studying 52 congenitally malformed ears in 45 children between five and 10 years of age. In six children the malformations were bilateral. The malformations clinically manifested as microtia, atresia of the external auditory canal and conductive deafness. Analyzing anatomical details and pathological changes on HRCT axial sec...

In order to evaluate a possible role of several peptides in the human urogenital tract, peptide concentrations in urogenital tissues collected from surgery were measured using specific radioimmunoassay. The specimens were extracted in boiling 0.5M acetic acid, and these extracts were utilized to measure neuropeptide concentrations, i.e., neuropeptide Y(NPY), calcitonin gene-related peptide (CGR...