1/6. Imaging rounds #111. VATER association.The following case describes the roentgenographic and clinical findings of a condition of interest to the orthopaedic surgeon. Initial history, physical findings, and roentgenographic examinations are found on this page. The next page presents the final clinical differential diagnosis.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/6. focal dermal hypoplasia (Goltz syndrome): case reports.Two Cape Coloured children, both with physical stigmata of Goltz syndrome, are described. Accurate diagnosis of congenital defects in the newborn allows optimal planning of surgical treatment and more accurate prognosis and genetic counselling.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/6. 45X/46X,r(X) with syndactyly and severe mental retardation.Two white females, age 2 1/2 and 33 years, respectively, were investigated because of severe mental retardation associated with neurologic abnormalities, coarse face, and soft tissue syndactyly involving upper and lower limbs. Each had cytogenetic findings of a mosaic variant of Ullrich-turner syndrome with X ring chromosome in peripheral lymphocyte and skin fibroblasts. Early X replication occurred in one-third of the X ring chromosomes; there was no evidence for X-autosome translocation involving either X and an autosomal duplication; results of studies for fragility of the X chromosomes were unremarkable. in situ hybridization with an X centromere probe was positive for the ring. To our knowledge, the unusual constellation of cytogenetic, physical, and mental findings seen in these 2 individuals has not been reported previously.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/6. Ascertainment of 68,XX double aneuploidy by midtrimester biochemical screening: a case report.A fetus with 68,XX karyotype was ascertained by an elevated midtrimester MSHCG. By antenatal ultrasound, the only unusual finding was in relation to the placenta. Preterm delivery was mandated by the development of severe preeclampsia. Postmortem examination of the stillborn fetus demonstrated no abnormal physical findings other than bilateral syndactyly of fingers and toes.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/6. smith-lemli-opitz syndrome: phenotypic extreme with minimal clinical findings.smith-lemli-opitz syndrome (SLO) is caused by inherited enzymatic deficiency of 7-dehydrocholesterol-delta7-reductase and resultant cholesterol deficiency. It comprises a characteristic combination of facial features, malformations, and mental retardation. We report on three related patients (two brothers and their first cousin) with mental retardation and minimal physical signs in whom the diagnosis of SLO was delayed for a number of years. The presence of a third-degree relative in the absence of consanguinity in this family supports the proposed high population carrier frequency. Our report suggests that cases of mild SLO remain undiagnosed and untreated, and that awareness of this common cause of mental retardation is low.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/6. Zygodactyly as the most striking physical anomaly in an adult male patient with pure partial trisomy 1q.We report on a dysmorphic and mentally retarded adult male patient with partial trisomy 1q resulting from a "de novo" tandem duplication of the 1q32.3-->q42 region. The dysmorphic features consisted of facial asymmetry, synophrys, right external strabismus, teeth anomalies and bilateral syndactyly of fingers III-IV and toes II-III evoking zygodactyly. Clinical comparison is made between the present observation and previously reported cases with pure duplication including the chromosome 1 segment (q32-->q42).- - - - - - - - - - ranking = 4keywords = physical (Clic here for more details about this article) |