Erschienen in:
01.12.2014 | Case Report
Buried penis accompanied by undescended testicles and megameatus hypospadias as a severe genital manifestation of Robinow Syndrome
verfasst von:
Assist. Prof. Burak Ersoy, MD, Tayfun Aköz, MD, Sinan Ekici, MD
Erschienen in:
European Surgery
|
Ausgabe 6/2014
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Excerpt
Robinow Syndrome was described in 1969 as a new variant of dwarfing syndrome with mesomelic limb shortening, hemivertebrae and genital hypoplasia [
1]. Both autosomal dominant and recessive inheritance have been reported, of which the former is more common [
2]. Clusters of the autosomal recessive form have been particularly frequently observed in Turkey, Oman, and Czech Republic, demonstrating a high degree of consanguineous marriages in these populations [
2‐
6]. …