Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome.

Purpose: Microphthalmia with linear skin defects syndrome (MLS or MIDAS, OMIM #309801) is a rare X-linked male-lethal disorder characterized by microphthalmia or other ocular anomalies and skin lesions limited to the face and neck. However, inter- and intrafamilial variability is high. Here we report a familial case of MLS.

Etiological diagnosis in the hearing impaired newborn: proposal of a flow chart.

Objective: Most industrialized countries have introduced some form of universal newborn hearing screening program. Both identification and rehabilitation of hearing loss in newborns have evolved to an acceptable standard and the need for a standardized etiological protocol is emerging.

Methods: Extensive literature search to determine which investigations can help identifying the cause of congenital hearing loss and how to limit extensive testing in these children by taking into account the most prevalent causes.

Dynamics of C-reactive protein and white blood cell count in critically ill patients with nosocomial Gram positive vs. Gram negative bacteremia: a historical cohort study.

Background: Nosocomial bacteremia is associated with a poor prognosis. Early adequate therapy has been shown to improve outcome. Consequently, rapid detection of a beginning sepsis is therefore of the utmost importance.

Expressive language in persons with Prader-Willi syndrome.

The aim of the present study was to add to the delineation of the prevalence and nature of language difficulties in Prader-Willi syndrome (PWS). Subjects of this study were 32 Dutch speaking individuals (20 males, 12 females), with chronological ages ranging from 4;6 to 29,5 and total IQ ranging from 40 to 94. Spontaneous speech samples were subjected to a consensus orthographic transcription and analysed by means of TOAST, a Dutch standardized diagnostic instrument to investigate spontaneous language production.