Trends in telehealth versus on-site clinical genetics appointments in Manitoba: a comparative study.

Telehealth involves the use of information and communications technology to deliver health services to patients over distance. Canada is well suited to benefit from telehealth since many individuals live in remote, rural and isolated locations. Manitoba is the easternmost prairie province and MBTelehealth is an active Canadian program that currently has 105 sites in 73 communities.

Early-onset neurodegenerative disease of the cerebellum and motor axons.

We describe a novel hereditary neurodegenerative disease of infancy affecting an Aboriginal family from northern Manitoba, Canada. The parents are nonconsanguineous, without a family history of neurodegenerative diseases. Four of 10 siblings (three males and one female) presented with neurologic abnormalities including arthrogryposis, seizures, and severe developmental delay shortly after birth.

Concordance of three methods for palpebral fissure length measurement in the assessment of fetal alcohol spectrum disorder.

Background: The assessment of individuals at risk of fetal alcohol spectrum disorders (FASD) includes the assessment of the craniofacial features that can result from prenatal alcohol exposure. The characteristic facial features of fetal alcohol syndrome (FAS) consist of short palpebral fissures, smooth or flattened philtrum, and thin vermilion border of the upper lip. There are various methods for measuring palpebral fissure lengths (PFLs) and it can be challenging for clinicians to obtain reproducibly accurate measurements.

Increased nuchal translucency thickness: a potential indicator for Ritscher-Schinzel syndrome.

Objective: The Ritscher-Schinzel syndrome (RSS), also known as the 3C syndrome, is an autosomal recessive disorder classically comprising craniofacial, cerebellar and cardiac defects. The underlying molecular etiology remains unknown; therefore, prenatal diagnosis of recurrences depends on identification of the associated structural anomalies on second trimester ultrasound examination. Identification of recurrences using first-trimester ultrasound has not been reported previously.

Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases.

The Manitoba Oculotrichoanal (MOTA) syndrome was initially described by Marles et al. [1992; Am J Med Genet 42: 793-799] in Aboriginal patients of the Island Lake region of Northern Manitoba. Characteristic findings in affected patients included unilateral upper eyelid coloboma or cryptophthalmus with ipsilateral aberrant anterior hairline pattern and anal anomalies.

Humeroradial synostosis, ulnar aplasia and oligodactyly, with contralateral amelia, in a child with prenatal cocaine exposure.

Humeral "bifurcation" due to humeroradial synostosis, and amelia are both very rare limb anomalies. We report on a Canadian. Aboriginal boy with both these limb deficiencies.