Description of adults and immature stages of Antipodoecia Mosely from Australia and synonymy of the families Antipodoeciidae and Anomalopsychidae (Insecta: Trichoptera).

The female, larva, and pupa of Antipodoecia Mosely from Australia are described, males re-examined and briefly described. Similarities with other trichopteran families are discussed. Based on morphological synapomorphies of males, females, pupae, and larvae, we infer that the genera Antipodoecia, Anomalopsyche, and Contulma share an immediate common ancestor, although relationships among these genera remain unresolved.

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid, amino acid and choline metabolism that can result from defects in two flavoproteins, electron transfer flavoprotein (ETF) or ETF: ubiquinone oxidoreductase (ETF:QO). Some patients respond to pharmacological doses of riboflavin. It is unknown whether these patients have defects in the flavoproteins themselves or defects in the formation of the cofactor, FAD, from riboflavin.

Marfan syndrome: clinical diagnosis and management.

Marfan syndrome is a multisystem connective tissue disorder usually associated with mutation in fibrillin, and occasionally with mutation in TGFBR1 or 2. The clinical diagnosis is made using the Ghent nosology, which will unequivocally diagnose or exclude Marfan syndrome in 86% of cases. Use of a care pathway can help implementation of the nosology in the clinic.

Isolated sulphite oxidase deficiency mimics the features of hypoxic ischaemic encephalopathy.

Unlabelled: Isolated sulphite oxidase deficiency (ISOD) is a rare autosomal recessive inborn error of metabolism, which may present at birth with intractable seizures (often of prenatal onset) and severe neurological abnormalities. In infants who survive, lens dislocation may occur from 8 weeks of age. The neuropathological findings in ISOD are similar to those seen in severe perinatal asphyxia.

Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study.

Bardet-Biedl syndrome (BBS) and Laurence-Moon syndrome (LMS) have a similar phenotype, which includes retinal dystrophy, obesity, and hypogenitalism. They are differentiated by the presence of spasticity and the absence of polydactyly in LMS. The aims of this study were to describe the epidemiology of BBS and LMS, further define the phenotype, and examine genotype-phenotype correlation.

A Schinzel-Giedion-like syndrome--a milder version or a separate condition?

We report two 12-year-old monozygotic twins followed from birth. Their features include midface hypoplasia, a prominent forehead, coarse features, sensorineural deafness, short stature with thoracic kyphosis and lumbar lordosis and intellectual delay. As they have developed, their features have been reminiscent of a storage disorder but mucopolysaccharidoses, mucolipidoses and gangliosidoses have been excluded by biochemical testing.

Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome.

CFC (cardiofaciocutaneous) syndrome (MIM 115150) has been considered by several authors to be a more severe expression of Noonan syndrome. Affected patients present with congenital heart defects, cutaneous abnormalities, Noonan-like facial features and severe psychomotor developmental delay. We have recently demonstrated that Noonan syndrome can be caused by missense mutations in PTPN11(MIM 176876), a gene that encodes the non-receptor protein tyrosine phosphatase SHP-2.

Ophthalmic findings in fetal anticonvulsant syndrome(s).

Purpose: To report the prevalence of ocular abnormalities in a group of children diagnosed with fetal anticonvulsant (FAC) syndrome(s).

Design: Retrospective, observational, noncomparative case series.

Participants: Forty-six children, age range 8 months to 16 years 5 months (mean, 7 years 1 month), with a confirmed diagnosis of an FAC syndrome.