A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13-q21.3.

Six individuals of consanguineous Bedouin kindred presented at infancy with an autosomal recessive syndrome of severe global developmental delay, positive pyramidal signs, unique dysmorphism, skeletal abnormalities, and severe failure to thrive with normal birth weights. Patients had a profound intellectual disability and cognitive impairment with almost no acquired developmental milestones by 12 months. Early-onset axial hypotonia evolved with progressive muscle weakness, reduced muscle tone, and hyporeflexia.

Phenotypic variability in patients with unique double homozygous mutations causing variant ataxia telangiectasia.

Ataxia-Telangiectasia (A-T) is a neurodegenerative disease caused by bi-allelic mutations in the Ataxia-Telangiectasia-Mutated (ATM) gene. Complete lack of ATM activity leads to severe A-T and mutations allowing for residual activity cause a milder phenotype, termed variant A-T. There are only sparse data on the variability in phenotypes of variant A-T patients carrying the same mutations.

Fetal wide subarachnoid space and its outcome in cases of macrocephaly without ventriculomegaly.

To examine the occurrence and outcomes of fetuses with wide subarachnoid space (WSS) without ventriculomegaly in pregnant women with fetal macrocephaly as a sole diagnosis. A retrospective study was performed, analyzing patients with fetal macrocephaly between the years 2008 and 2018. All these patients underwent MRI, in order to detect brain anomalies.

Malignant Peritoneal Mesothelioma in an Infant With Familial ATM Mutations.

Ataxia-telangiectasia (A-T), an autosomal recessive disorder characterized by progressive neurologic dysfunction, oculocutaneous telangiectasia, immunodeficiency, and cancer susceptibility, is caused by mutations in the ATM gene. A previous study of 4 A-T patients identified 2 rare homozygous missense mutations residing on the same allele of the ATM gene: c.1514T>C and c.

Night-time cough in children with acute wheezing and with upper respiratory tract infection.

Aims: To evaluate night-time cough patterns in children with either acute wheezing or an URTI, and to correlate them to the clinical diagnosis.

Methods: Night-time cough variables of 49 children diagnosed with acute wheezing and with URTI were compared using a portable cough monitoring instrument placed in the child's room.

Results: Children with acute wheezing had significantly more coughs per night, a longer duration of cough sounds, a higher number of coughing bouts per night, and a higher number of coughs per second within a bout, than children with an URTI.