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Background: Clarifying the cause of global developmental and speech delay is of considerable significance in pediatrics. We present the clinical phenotype of the 22q13 deletion syndrome - also known as Phelan-McDermid syndrome - and show the diagnostic options., Patient: We report on a female patient with muscular hypotonia, tall stature, minor facial dysmorphism, retarded motor and mental development, and severe speech delay., Method: Chromosomal analysis was performed first on peripheral lymphocytes on GTG-banded chromosomes. Fluorescence in situ hybridization (FISH) analysis was carried out using the dual-color LSI DiGeorge/VCFS Region Probe (TUPLE1, N25) (Vysis/Abbott) and the subtelomeric probe tel 22q13.3 (Tel Vysion 22q)., Results: The analysis of metaphase chromosomes at 450 band resolution showed a normal female karyotype 46,XX. FISH analysis revealed a 22q13 deletion., Conclusion: Muscular hypotonia and developmental delay are non-specific findings observed in many genetic syndromes. In association with severe speech delay and normal or advanced growth pediatricians should consider 22q13 deletion syndrome as a potential cause and initiate a genetic examination.

Neurofibromatosis type 1 is the most common of the phakomatoses and the clinical follow-up is an interdisciplinary challenge. The data of 27 patients with NF1 were systematically reviewed and compared to data from the literature. All of our patients had clinical signs of NF1. Besides the classic criteria café-au-lait spots (100%), freckling (48,1%), positive family history (44,1%), neurofibromas (40,7%), Lisch nodules (22,2%) and optic pathway tumors (22,2%) there were developmental delay (40,7%), macrocephaly (33,3%), strabism (29,6%), scoliosis (18,5%), epilepsy (14,8%), pubertal anomalies (14,8%), short stature (11,1%) and tics. Morphologically, CNS hamartomas (55,5%), astrocytomas (22,2%) and one pheochromocytoma became apparent. Special findings consist of one aneurysm of internal carotic arteria, juvenile xanthogranulomas, a case of pulmonary stenosis and an intracardial tumor. Four new mutations in the NF1 gene were found. Regular screening of optic glioma with MRI had no clinical significance. In contrast to other authors, one of our patients with optic glioma showed clinical progress after twelve years of age. The detection of astrocytomas led only to therapeutic consequences, when clinical signs or symptoms occurred. As with other authors, we found no potential for CNS hamartoma to proliferate. In three cases with pubertal anomalies we found CNS gliomas, which indicates the need for MRI. The expense of screening, apart from clinical surveillance, seems inadequate in relation to clinical relevance and costs. We describe four new mutations in the NF1 gene; there have been no specific genotype-phenotype correlations. Neurofibromatosis type 1 and associated clinical abnormalities in 27 children.

Objective: The aim of the study was to analyse the accuracy of prenatal sonography in terminated pregnancies and the influence of factors like personnel and standard of technique and organisation on the quality of prenatal sonography for the detection of fetal anomalies., Material and Methods: The retrospective study includes 64 cases with termination of pregnancy from 1989 to 1997. We analyse prenatal sonographic and postnatal pathological findings of fetus, placenta and umbilical cord. Furthermore we compare two time periods (1989-93 and 1994-97) with different ultrasound conditions., Results: In 36 cases (56%) the prenatal diagnosis was exact. In 7 cases (11%) autopsy could not confirm all findings (false positive), whereas autopsy detected additional anomalies in 18 cases (28%) (false negative). The diagnosis was not correct in 3 cases (5%), whereby 2 pregnancies were terminated without proved somatic and chromosomal anomalies. Compared to 1989-93 the rate of false-positive (12 vs. 5) as well as false-negative (9 vs. 3) diagnoses decreased significantly (p < 0.002) in cases with major anomalies (heart, central nervous system)., Conclusion: We conclude that the improvement of the level of organisation, personnel and technical equipment has relevant impact on the accuracy of prenatal sonography. Autopsy as a method of quality control is absolutely necessary.