Phenotypic Expansion: Fetus With Cole-Carpenter Type 2 Presenting With Novel Neonatal Lethal Skeletal Dysplasia.

We report a 28-year-old G2P0 at 24 weeks 5 days who presented for evaluation secondary to suspected skeletal dysplasia in her fetus. Fetal ultrasound imaging demonstrated foreshortened long bones by 9-10 weeks, multiple bowing deformities and fractures, 11 foreshortened paired ribs with fractures, decreased skull mineralization, frontal bossing, enlarged cavum septum pellucidi, and severe fetal growth restriction (< 2%). Findings were concerning for life limiting condition with thoracic circumference < 2.

A qualitative pilot study of adult AAC users' experiences related to accessing and receiving mental health services.

There is currently limited research related to mental health supports for individuals who use AAC, particularly about the actual lived experiences of AAC users who receive mental health services. There may be alterations to mental health services for individuals who use AAC. The aim of this study was to gain the perspectives of AAC users on accessing and receiving mental health services.

Same people, different group: Social structures are a central component of group concepts.

We examine whether people conceptualize organized groups as having at least two parts: In addition to members (e.g., Alice), they also have social structures (i.

A developmental investigation of group concepts in the context of social hierarchy: Can the powerful impose group membership?

Group membership is not always voluntary and can be imposed within a social context; moreover, those with power disproportionately shape group membership. We asked if children and adults view group membership as imposed by the powerful. We undertook four studies (465 children ages 4-9, 150 adults): Studies 1-2 used novel minimal groups; Study 3 used 'cool' and 'uncool'; Study 4 used novel ethnic groups.

Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy.

Hereditary deafness and retinal dystrophy are each genetically heterogenous and clinically variable. Three small unrelated families segregating the combination of deafness and retinal dystrophy were studied by exome sequencing (ES). The proband of Family 1 was found to be compound heterozygous for NM_004525.