Serum lipid analysis confirms the diagnosis of X-linked dominant chondrodysplasia punctata - Conradi-Hünermann-Happle syndrome.

We present the morphological and biochemical findings in a twelve month old girl with chondrodysplasia punctata X2 - Conradi-Hünermann-Happle syndrome. This disease is characterized by limb length discrepancies, growth retardation, ichthyosis, cataracts, and punctate calcification. The diagnosis could finally be confirmed by increased concentrations of cholesterol precursors as recently found in the plasma and tissues of affected patients.

[Necrotizing enterocolitis--analysis of a case cohort]. / Die nekrotisierende Enterocolitis--Analyse einer Erkrankungsserie.

During a period of 25 months 11 newborns treated at the children's university hospital of Münster (0.8%) underwent laparotomy for necrotizing enterocolitis (NEC). The cases appeared sporadically without forming "clusters" typical of infectious etiology. 10 of 11 cases were premature infants (median birth weight 1280 g) stressing the predisposing role of immaturity. Ischemic events occurred in all patients prior to the onset of symptoms. The introduction of surfactant-therapy during the study period did not influence the incidence apparently. Ultrasonography was superior to radiology with regard to detection of extraluminal gas. We differentiated two types of clinical courses (3 acute and 8 protracted). In 5 cases we noticed a relapse of clinical symptoms after uptake of oral feeding. 3 newborns died with septic shock. The median hospitalisation time was 88.5 days in the 8 survivors. Enterostomy was replaced by definite anastomosis after 67.5 days (median). Median daily weight gain was 16.6 g. Late complications like permanent stenoses of short bowel syndrome were not observed. Early surgical intervention according to the general rules of abdominal surgery seems important even in very low birth weight infants.