OBJECTIVE Classic facial characteristics of fetal alcohol syndrome (FAS) are shortened palpebral fissures, smooth philtrum, and thin upper vermillion. We aim to help pediatricians detect facial dysmorphism across the fetal alcohol spectrum, especially among nonsyndromal heavily exposed (HE) individuals without classic facial characteristics. METHODS Of 192 Cape Coloured children recruited, 69...

To the Editor
 An elegant study reported dysmorphic cells and syncytia in deceased's lungs for COVID-19. The authors reasonably considered that most of these syncytia-forming were pneumocytes, as identified by specific biomarkers. However, cellular dysmorphism are pathological features common other respiratory infections caused different viruses, including human syncytial virus (HRSV) Epst...

Case presentation A 5-year-9month old Chinese girl presented with severe growth retardation, height SDS -4.17 and body weight SDS -2.37. The mid-parental height was 151.2cm (3-10 centile). She was born small for gestational age with no catch-up growth. Congenital anomalies including right dysplastic kidney and large secundum atrial septal defect were present. She had delayed development with mi...

We report the first visible cytogenetic deletion involving the NF1 gene in a patient with sporadic neurofibromatosis, dysmorphic features, and marked developmental delay. The combined evidence of molecular and cytogenetic techniques based on dosage reduction, hemizygosity for microsatellite markers, high resolution G banding, and FISH analysis, predicts this deletion to be approximately 7 Mb in...

This retrospective study aims to reveal the prevalence of sacral dysmorphism, proportion its findings and signs clinical importance in pelvic surgeries. 1753 nontraumatic lower abdominal CT images were analyzed abnormal anatomy dysmorphic patients. Of patients included study; S1-S2 residual disc 879 (50.60%), presence mammillary body or process 209 (12%), acute ascending descent 182 (10.47%), t...

BACKGROUND Hereditary forms of hearing loss are classified as syndromic, when deafness is associated with other clinical features, or non-syndromic, when deafness occurs without other clinical features. Many types of syndromic deafness have been described, some of which have been mapped to specific chromosomal regions. METHODS Here we describe a family with progressive sensorineural hearing l...

49,xxxxy is rare chromosomal pattern and these patients have mental retardation, small penis, cryptorchidism and skeletal anomalies. we reported a 10 month-old boy who has hypotonia, microcephaly, hypertelorism, depressed nasal bridge, epicanthic folds and bilateral multiple ear tags, high arched palate, down set ears, micrognathia and congenital heart disease such as patent ductus arteriosus (...

Soft, solvent-free poly(dimethylsiloxane) elastomers are fabricated by a one-step process via crosslinking bottlebrush polymers. The bottlebrush architecture prevents the formation of entanglements, resulting in elastomers with precisely controllable low moduli from 1 to 100 kPa, below the lower limit of traditional elastomers; moreover, the solvent-free nature enables their negligible adhesive...