ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.

Mutations in the ERF gene, coding for ETS2 repressor factor, a member of the ETS family of transcription factors cause a recently recognized syndromic form of craniosynostosis (CRS4) with facial dysmorphism, Chiari-1 malformation, speech and language delay, and learning difficulties and/or behavioral problems. The overall prevalence of ERF mutations in patients with syndromic craniosynostosis is around 2%, and 0.7% in clinically nonsyndromic craniosynostosis.

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.

Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. Delineation of the molecular defects within the imprinted 11p15.5 region can predict familial recurrence risks and the risk (and type) of embryonal tumour.

The heterogeneity of hyperinsulinaemic hypoglycaemia in 19 patients with Beckwith-Wiedemann syndrome due to KvDMR1 hypomethylation.

Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome caused by multiple epigenetic and genetic changes affecting imprinted genes on chromosome 11p15.5. Hypomethylation of KvDMR1 on the maternal allele is the most common genetic cause, and hyperinsulinaemic hypoglycaemia (HH) is the most common biochemical abnormality.

Functional outcomes in monobloc advancement by distraction using the rigid external distractor device.

Background: Craniofacial dysostosis syndromes produce multisutural synostoses combined with severe midfacial retrusion. This may cause serious functional problems, including airway obstruction, exposure of the eyes, visual pathway dysfunction, and raised intracranial pressure. Early midface advancement may be necessary to address these issues.

Speech, language, and cognitive development in children with isolated sagittal synostosis.

This study investigated the occurrence, nature, and severity of speech, language, and cognitive impairment in 76 children (61 males, 15 females) with isolated sagittal synostosis (ISS) aged 9 months to 15 years 7 months. There was no increased prevalence of global cognitive impairment in the group but there was a high prevalence rate of speech and/or language impairment with 28 (37%) displaying impairment of whom 20 (71%) had moderate or severe impairments that fulfilled the criteria for specific impairments. Prevalence rates were only increased for children over two years of age.