Sotos syndrome is an autosomal dominant condition characterised by a distinctive facial appearance, learning disability and overgrowth resulting in tall stature and macrocephaly. In 2002, Sotos ...

Coffin–Siris Syndrome (CSS, MIM 135900) is a rare genetic disorder, and mutations in ARID1B were recently shown to cause CSS. In this study, we report a novel ARID1B mutation identified by whole ...

Extreme macrocephaly treated by shunting & cranial reduction/fixation in 1st week of life Peer-Reviewed Publication. Journal of Neurosurgery Publishing Group ...

Using Inuit-specific percentiles, however, 25%-30% fewer boys and 15%-20% fewer girls had macrocephaly diagnoses, meaning that 651 fewer children would have macrocephaly diagnoses.

BUFFALO, N.Y. ­­­— Up to 5% of infants today are born with abnormally large heads, a condition known as macrocephaly. While it can be genetic, the condition is often caused by hydrocephalus, or an ...

“This paper shows that a single point mutation in NFIB is responsible for these clinical characteristics, including mild intellectual disability, lack of muscle tone, speech delay, attention deficit ...

Using stem cells collected from 13 boys diagnosed with autism — including eight boys with macrocephaly, a condition in which the head is enlarged — a Yale team created brain organoids (small, ...

Could interneuron migration explain macrocephaly?. ScienceDaily. Retrieved June 2, 2025 from www.sciencedaily.com / releases / 2018 / 02 / 180222125731.htm. University of Liege.

In this article the authors report the case of an infant born with extreme macrocephaly. The baby's head measured 50 cm in circumference (more than the 99th percentile).

Two percent of babies are born with macrocephaly, a scary-sounding word that just means large head. Paris Hilton and her infant son were bullied for what some said was his too-large head.

The absence of one copy of a single gene in the brain causes a rare, as-yet-unnamed neurological disorder, according to new research that builds on decades of work by a University at Buffalo ...