... in brain volume and cranial anomalies. ^3-5 A minority of these size changes involve head overgrowth (e.g. 1250 out of 5255, or 24%, of cases in the Decipher open access patient collection ⁶ where a head size change was observed), termed ‘macrocephaly’ where the occipitofrontal...

... the uncertainty of not having completely observed curves, allowing for a more accurate assessment of the uncertainty of parameter estimates, something that most methods currently cannot accomplish. This work is motivated by a longitudinal study on macrocephaly, or atypically large head size, in which electronic...

... developed macrocephaly. Patients with a normal head circumference had normal neurodevelopment. Only one patient with microcephaly persisted with impairment of the neurodevelopment at the end of follow-up. All the patients with macrocephaly had normal neurodevelopment. Discussion Our study suggests...

... Using trio exome sequencing, Horn et al. identify de novo gain-of-function mutations in PAK1 in four unrelated individuals with intellectual disability, macrocephaly and seizures. PAK1 encodes a p21-activated kinase, which has been implicated in brain development...

... neuropsychiatric symptoms are underpinned by long-range over-connectivity. ASD autism axon guidance behavior CHD8 chromatin remodelling cortex functional connectivity gene expression macrocephaly mouse Autism spectrum disorder (ASD) is diagnosed on the basis of socio-communicative deficits...

... of the patients who showed normal mental development, whereas retarded hydrocephalic children of all ages continued to have abnormal VEPs. Childhood Infancy Macrocephaly Mental development Nervous system infection Shunting Ventriculomegaly ...

...Oxford University Press This chapter presents the case of an 11-month-old male with a history of macrocephaly, anorexia, and right upper extremity tremors. His family history was significant for a father with anaplastic astrocytoma. Physical exam was notable for left asymmetric macrocephaly...

... Structures Holoprosencephaly Hydrocephalus Macrocephaly Lissencephaly Microcephaly Pachygryia Polymicrogyria Schizencephaly Cerebellar Hypoplasia Cortical Development Corpus Callosum Cerebellar Cerebrum Neuronal Migration Anomalies Brain Central nervous system anomalies Neural tube defects...

... phenotype of autism or developmental delay with macrocephaly (Boccone et al., 2006; Butler et al., 2005; Buxbaum et al., 2007; Goffin, Hoefsloot, Bosgoed, Swillen, & Fryns, 2001; Herman, Butter, et al., 2007; McBride et al., 2010; Orrico et al., 2009; Stein, Elias, Saenz, Pickler, & Reynolds, 2010...

... described considerably periventricular macrocephaly This content is only available as a PDF. ...

... syndromic conditions, head circumference can be characteristically small or large. Thus, comparison to syndrome specific norms allows for accurate interpretation of the absolute measurement. ofc head circumference macrocephaly macrocephaly head circumference velocity Head circumference occipito frontal...

...Oxford University Press This chapter reviews isolated and syndromic causes of macrocephaly and megalencephaly. The two terms are usually but not always interchangeable. The differential diagnosis of macrocephaly includes familial macrocephaly, chromosome duplications and deletions, metabolic...

... of the BBAP. BBAP findings to date are consistent with biological subtypes of autism and risk genes being inherited or occurring de novo. Although macrocephaly does not appear to show familiality, extreme macrocephaly may cluster in a subset of autism families. Approximately 4.8...

... and posterior thorax. C. Adult with pigmented, atrophic skin and prominent pretibial veins. Figure 13-29 Livedo racemosa on lateral thigh of 20-year-old woman with Sneddon syndrome. (Courtesy of Dr. Odile Enjolras). Figure 13-30 Macrocephaly-capillary malformation syndrome. A. 1.5 year...

...This chapter discusses the cranial circumference in children with autism/Asperger syndrome. The chapter details Sotos syndrome, Cole-Hughes macrocephaly syndrome, fragile X syndrome, Orsvatisk 1997 syndrome, Neurofibromatosis type 1 syndrome, Hypomelanosis of Ito syndrome, PTEN-hamartoma-tumor...

... deficiency can also cause CH (endemic cretinism) (DeLange et al. 2000). Gaudino and colleagues (2005) determined the etiology of CH in 49 non-athyroid cases. Attention-deficit hyperactivity disorder (ADHD) Congenital hypothyroidism (CH) Macrocephaly Congenital hypothyroidism (CH) affects approximately 1...

...). These deficits impact on long-term adaptation to society (Acosta et al. 2006; Barton and North 2007; Krab et al. 2008; Krab et al. 2009). Learning disabilities (LDs) MRI T2-hyperintensities and cognitive status Megalencephaly Neurofibromatosis type Specific learning disabilities (SLD) macrocephaly...

..., and Juvenile Polyposis syndrome. These syndromes are collectively called the PTEN hamartoma tumor syndromes (PHTS) because they have a predisposition to tumors and hamartomas. PTEN germ line mutations have also been recently linked to autism and macrocephaly and the prevalence of PTEN mutation in children...