Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis

Schinzel-Giedion syndrome is a rare autosomal recessive disorder characterized by coarse facies, midface retraction, hypertrichosis, multiple skeletal anomalies, and cardiac and renal malformations. Craniofacial abnormalities of this syndrome sometimes resemble a storage or metabolic disease. The pathogenesis of the disease remains unknown. The objective of this report was to emphasize the importance of congenital bilateral hydronephrosis for the diagnosis of Schinzel-Giedion syndrome. We describe the first Brazilian case of a newborn with typical facies, generalized hypertrichosis, cardiac and skeletal anomalies, and bilateral hydronephrosis detected during pregnancy and confirmed later by abdominal ultrasonography. Chromosomal constitution was normal. Of the 35 cases already reported in the literature, 31 presented hydronephrosis, which is considered an important clue in diagnosis. If Schinzel-Giedion syndrome were indexed as a cause of congenital hydronephrosis, its identification would be greatly facilitated, since the majority of the other findings in Schinzel-Giedion syndrome are nonspecific and common to many genetic syndromes.

Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications.

Long-term observations of individuals with the so-called Langer-Giedion (LGS) or tricho-rhino-phalangeal type II (TRPS2) are scarce. We report here a on follow-up of four LGS individuals, including one first described by Andres Giedion in 1969, and review the sparse publications on adults with this syndrome which comprises ectodermal dysplasia, multiple cone-shaped epiphyses prior to puberty, multiple cartilaginous exostoses, and mostly mild intellectual impairment. LGS is caused by deletion of the chromosomal segment 8q24.11-q24.13 containing among others the genes EXT1 and TRPS1. Most patients with TRPS2 are only borderline or mildly cognitively delayed, and few are of normal intelligence. Their practical skills are better than their intellectual capability, and, for this reason and because of their low self-esteem, they are often underestimated. Some patients develop seizures at variable age. Osteomas on processes of cervical vertebrae may cause pressure on cervical nerves or dissection of cerebral arteries. Joint stiffness is observed during childhood and changes later to joint laxity causing instability and proneness to trauma. Perthes disease is not rare. Almost all males become bald at or soon after puberty, and some develop (pseudo) gynecomastia. Growth hormone deficiency was found in a few patients, TSH deficiency so far only in one. Puberty and fertility are diminished, and no instance of transmission of the deletion from a non-mosaic parent to a child has been observed so far. Several affected females had vaginal atresia with consequent hydrometrocolpos.

Carola Milà i la felicitat de ser una dona : La teoria feminista de Maria Aurèlia Capmany en 'Feliçment, jo sóc una dona'

Aquest treball presenta una anàlisi textual de l'obra de Maria Aurèlia Capmany 'Feliçment, jo sóc una dona'. D'una banda, a través d'una breu presentació de l'autora fins al moment de la publicació de l'obra i, d'una altra, d'una síntesi del feminisme a Catalunya, l'autora del treball ens apropa a les teories feministes que Capmany aboca en la seva novel·la, fet que representa un punt d'inflació en la seva trajectòria novel·lística. L'anàlisi textual ens permet apropar-nos al concepte d'identitat femenina i a la seva construcció, així com relacionar-lo amb les teories feministes més recents.

Schluß-Rede des Abgeordneten Riesser über den Welcker'schen Antrag : gehalten in der 190sten Sitzung der verfassunggebenden Reichs-Versammlung zu Frankfurt a. M. ; nebst dem Resultate der namentlichen Abstimmung über den Antrag des Verfassungs-Ausschusses

Boberach: Die Annahme des Antrags auf sofortige Verabschiedung der Verfassung und Wahl des Königs von Preußen zum Kaiser kann den Wunsch des Volkes nach Macht und Größe des Reiches nicht erfüllen

Carola Gnies Gersi, Ganzfigurbildnis

Signatur des Originals: S 36/F08641

Carola Tölle, Kniestück

Signatur des Originals: S 36/F11885