The Silver-Russell syndrome (SRS) is characterised by severe intrauterine growth retardation, with a preserved head circumference, leading to a lean body habitus and short stature. Facial dysmorphism ...

We report on a father and son who have an interstitial deletion of 5p14. The father is clinically and mentally normal while the son has significant clinical involvement including microcephaly, ...

Females with one normal copy of the gene have less severe phenotypes, presenting with short stature, microcephaly and vision problems. "Characterization of this gene function and the spectrum of ...

Objective This study aims to explore the associated impairments of cerebral palsy (CP) and their correlates among children with CP in Vietnam. Design Descriptive cross-sectional study using ...

Researchers at Baylor College of Medicine, the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children’s Hospital and collaborating institutions show that rare variants in ...

The authors provide compelling evidence that ABBA interactions with its signaling partners is related to the development of at least some cases of microcephaly — a developmental anomaly associated ...

The authors identified a patient with microcephaly and intellectual disability patient harboring a mutation in the Abba variant (R671W), adding a clinically relevant dimension to the study.

Sometimes they work in the fields picking fruit. They have elongated faces, wide foreheads, large hands, and abnormally large ears and testicles. Some also have macrocephaly, scoliosis, loose joints, ...

A similar pattern was noted in final adult height (defined as height at ≥16 years). All other clinical features of interest were found in both groups (achondroplasia vs hypochondroplasia), including ...

Elrod explained. "We also knew about a case report in which a young girl with a loss-of-function mutation in TMEM65 experienced profound muscle weakness and microcephaly (abnormally small head ...