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Mirzaa et al (p. 269) propose that megalencephaly-capillary malformation syndrome (MCAP) diagnostic criteria include progressive megalencephaly (MEG) with either vascular anomalies or syndactyly.

The researchers also suggest diagnostic criteria for the more recently described megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome (MPPH), including progressive MEG and polymicrogyria (PMG), and absence of vascular anomalies and syndactyly characteristic of MCAP, as well as absence of brain heterotopia.

The researchers base their proposal on their comparison of features of 42 patients evaluated for physical and neu-roimaging characteristics of MCAP and MPPH. Their more global view of these syndromes is based on classes of developmental abnormalities that include primary MEG and growth dysregulation, developmental vascular anomalies (primarily capillary malformations), distal limb anomalies (such as syndactyly and polydactyly), cortical brain malformations (most distinctively PMG), and variable connective tissue dysplasia.

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Figure 8 A–C. Dynamic MRI changes over time.


Evans et al (p. 358) describe the Mowat-Wilson syndrome (MWS) pheno-type, providing a foundation for interventions and management options that enhance MWS patients' independence and quality of life.

Caused by a heterozygous mutation or deletion of the ZEB2 gene, MWS is characterized by a distinctive facial appearance in association with intelectual disability (ID) and other features. These may include agenesis of the corpus calosum, seizures, congenital heart defects, microcephaly, short stature, hypotonia, and Hirschsprung disease.

Researchers investigated the MWS behavioral phenotype by having parents of 61 patients with the disorder complete the Developmental Behavior Checklist. The researchers compiled this data and compared it with those from an epi-demiological sample of people with IDs from other causes.

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MWS-associated demeanor included a high rate of oral behaviors, an increased rate of repetitive behaviors, and under-reac-tion to pain. The phenotype also includes behaviors suggestive of a happy affect and sociability. Patients with MWS, however, also displayed high levels of behavioral problems similar to those displayed by children with intelectual disabilities from other causes. More than 30% of patients with MWS were reported to show clinically significant levels of behavioral or emotional disturbance.


Hickerton et al (p. 373) suggest ways health professionals can support parents who continue a pregnancy with an identified or suspected genetic condition.

Many people for whom prenatal testing reveals genetic conditions choose to terminate pregnancy, but little is known about the experiences of parents who choose to continue such pregnancies.

The researchers, therefore, conducted in-depth interviews with five mothers and four fathers who experienced a pregnancy where a genetic diagnosis was, or could have been, detected prenataly.

According to the researchers, attitudes and opinions of family, friends, health professionals, and the general community can either help or hinder parents.

Helpful attitudes and support include expressions of positive outlook and open mindedness, giving accurate information and extra time to see health professionals, focusing on the child rather than the diagnosis, and referral to support services.

Hindrances include dramatic or negative comments, lack of respect for parents' autonomy, emphasis on the diagnosis rather than the child, inaccurate information, negative attitudes toward disability, and suggestions to terminate the pregnancy.

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Figure 1. Varied prenatal pathways of participants.