Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1.

We have mapped the autosomal sex reversal locus, SRA1, associated with campomelic dysplasia (CMPD1) to 17q24.3-q25.1 by three independent apparently balanced de novo reciprocal translocations. Chromosome painting indicates that the translocated segment of 17q involves about 15% of chromosome 17 in all three translocations, corresponding to a breakpoint at the interphase between 17q24-q25. All three 17q breakpoints were localized distal to the growth hormone locus (GH), and proximal to thymidine kinase (TK1). Due to the distal location of the breakpoints, previously mentioned candidate genes, HOX2 and COL1A1, can be excluded as being involved in CMPD1/SRA1. The mouse mutant tail-short (Ts) which maps to the homologous syntenic region on mouse chromosome 11, displays some of the features of CMPD1.

Diagnostic procedures leading to successful separation of xipho-omphalopagus twins.

Xipho-omphalopagus twins with a pericardial bridge, extended liver tissue union and considerable intestinal herniation from one abdominal cavity to the other were separated successfully at the age of three months. Special diagnostic procedures including cardiac and abdominal sonography, catheterism of the umbilical vein with portal angiography, radionucleotide liver and bile duct imaging and separate oral glucose tolerance tests provided important information for perioperative and surgical patient management. Relevant items for determination of the favourable data and method of surgery are discussed.

[Diaphragmatic defect in trisomy 13]. / Zwerchfelldefekt bei Trisomie 13.

Congenital diaphragmatic defect is often combined with other malformations that are severe or fatal. The rare finding of a congenital diaphragmatic defect in a newborn with trisomy 13 is reported. The newborn died within 2 days. Postmortem examination showed typical malformations due to trisomy 13 besides a diaphragmatic defect of left retrosternal position. Karyotype revealed a 13/14 translocation of trisomy 13.

Asymptomatic primary empty sella in a 14-year-old girl: comparison of computer tomography and nuclear magnetic resonance imaging.

An enlarged, balloon-shaped sella was detected by chance in a completely asymptomatic 14-year-old girl, who presented with tall stature. While all endocrine functions were found to be normal, metrizamide cisternography with computer tomography revealed a flattened pituitary at the bottom of an empty sella. This could be compared later with nuclear magnetic resonance tomography, thus avoiding intrathecal contrast material and radiation exposure for the patient. The new technique depicts the sellar contents very well.

[Coumarin embryopathy]. / Coumarin-Embryopathie.

Anticoagulant therapy using coumarin derivatives (vitamin K antagonists) during early pregnancy may result in a characteristic embryopathy appearing as a phaenocopy of chondrodysplasia punctata (Conradi-Hünermann's disease). This has been suggested in advance by observations made in newborns of mothers who had been treated previously with warfarin or acenocoumon. Similar observations made in a newborn after the mother's treatment with phencoumon in early pregnancy are described in this paper. Coumarin embryopathy is proposed as a common term.

[Localisation of an extra-adrenal phaeochromocytoma with stenosis of the renal artery (author's transl)]. / Lokalisation eines extraadrenalen Phäochromozytoms mit Nierenarterienstenose.

Compression of the left renal artery occurred in an eleven-year old girl with arterial hypertension, the compression being caused by an extra-adrenal phaeochromocytoma. Localisation of the arteriographically not identifiable phaeochromocytoma was achieved by examining the blood in stages for the presence of catecholamines from the vena cava. This examination revealed enhanced norepinephrine levels in the left renal vein. Today the following possibilities are utilisable for localising a phaeochromocytoma: diagnosis via ultrasound, axial computer tomography, stepwise withdrawal of blood from the tributaries to the vena cava superior and inferior for determining the catecholamine content. The indication for performing arteriography after preliminary treatment of the patient with alpha-receptor blockers, has become an exception.

[Congenital spondylo-epiphyseal dysplasia: follow-up of a case over 9 years (author's transl)]. / Dysplasia spondyloepiphysaria congenita. Verlaufsbeobachtung eines Falles über 9 Jahre

A girl with the symptoms of dysplasia spondyloepiphysaria congenita has been observed during 9 years. The progressively severe alterations of the skeleton are demonstrated and briefly discussed.