The Development of Human Genetics at the National Research Centre, Cairo, Egypt: A Story of 50 Years.

This article describes my experiences over more than 50 years in initiating and maintaining research on human genetics and genomics at the National Research Centre in Cairo, Egypt, from its beginnings in a small unit of human genetics to the creation of the Center of Excellence for Human Genetics. This was also the subject of a lecture I gave at the 10th Conference of the African Society of Human Genetics, held in Cairo in November 2017, after which Professor Michèle Ramsay, president of the society, suggested that I write an autobiographical article for the Annual Review of Genomics and Human Genetics. I hope that I succeeded in the difficult assignment of summarizing the efforts of a researcher from a developing country to initiate and maintain the rapidly advancing science of human genetics and genomics in my own country and make contributions to the worldwide scientific community.

Surgical treatment of polydactyly and syndactyly during the 4th century AD.

INTRODUCTION: Polydactyly, or polydactylism, is a common congenital disorder of the limbs, consisting of any digit duplication beyond the normal five. The term syndactyly refers to fused digits. We herein present a thorough description of these diseases together with their surgical treatment, provided by Oribasius, a Byzantine physician of the 4th century. To our knowledge, this is the earliest description of supernumerary and fused fingers and their surgical management. MATERIAL AND METHODS: We conducted a thorough study of Oribasius' work. RESULTS: The 15th chapter of the 47th book of Oribasius' work is devoted to finger abnormalities (i.e. polydactyly and syndactyly) and their surgical treatment. DISCUSSION: With regard to the extensive medical knowledge of the 4th century as survived in Oribasius' work, these descriptions comprise, to the best of our knowledge, the earliest written references to the surgical treatment of polydactyly and syndactyly.

Clinical study of 459 polydactyly cases in China, 2010 to 2014.

Polydactyly is one of the most common hereditary limb malformations, involving additional digits on the hands and/or feet, which is a very attractive model to appreciate clinical and genetic heterogeneity. A high level of heterogeneity in polydactyly has been identified in different regions. However, such data of the medical literatures for Asian populations are relatively limited. This study was intended to shed light on the phenotypic manifestations of polydactyly in the recruited Chinese population and to characterize the medical literature on this condition. A total of 459 well-characterized polydactyly cases from Shanghai Children's Medical Center were recruited. Their phenotypes, inheritance patterns, and clinical heterogeneity were obtained from clinical medical records. It was found that 4.8% of cases were familial and 95.2% were sporadic. The proportions of preaxial and postaxial polydactyly types were 74.7% and 25.3%, respectively. In preaxial polydactyly, type I formed the overwhelming majority (95.9%). Among the postaxial polydactyly cases, type A was most prevalent at 69.8% and type B was witnessed in 30.2% of cases. Familial and sporadic polydactyly patients mainly had unilateral presentations. A total of 583 limbs with additional digits were recorded in the 459 subjects. Upper limb involvement was more common than lower, and right hand involvement was more common than left for preaxial polydactyly, and lower limb involvement was more common than upper in postaxial polydactyly. This cohort added useful clinical/epidemiological information to the polydactyly literature in the Chinese population and highlighted its marked clinical heterogeneity.

[Nicolò Paganini: Devil's violinist because of abnormal hands?--New investigations using a bronze cast from the right hand]. / Nicolò Paganini: Teufelsgeiger durch abnorme Hände?--Neue Untersuchungen eines Bronzegipsabgusses der rechten Hand.

This paper presents new measurements of a bronze cast from the right hand of the famous Italian violin virtuoso Nicolò Paganini (1782-1840). These are compared to anthropometric standard values. In addition, detailed dorsal and palmar views of the cast are shown. With a middle finger length of 75 mm, the palm width is 60 mm and the hand length 152 mm, which is significantly below the 5% percentile of today's standard values. Also the finger length index (0.55), the ratio of finger length to palm length (0.98) and the ratio of finger length to palm width (1.25) are significantly above normal limits. Hence, Paganini had abnormal hand measurements with a very small palm and relatively "long" fingers. This remarkable constellation, among others, could have been advantageous for his amazing skills as a violinist.

Hermann Friedberg's case report: an early description of CLOVES syndrome.

CLOVES syndrome is a recently described overgrowth disorder with complex vascular anomalies. Careful analysis of the case report by the German physician Hermann Friedberg "gigantism of the right lower limb" published in 1867 revealed that the report probably represents one of the first written accounts of CLOVES syndrome.

Ectrodactyly and Germany's eugenics law of 14 July 1933.

The family reported herein serves as a genetically and historically important vignette on the issues of nonpenetrance (versus germinal mosaicism) in nonsyndromic autosomal dominant ectrodactyly and the Eugenics Law of Germany of 14 July 1933, which was used to coerce the sterilization of the propositus despite infertility in his first marriage. In a sibship of seven children (with normal parents), three boys were affected. The propositus (adoptive grandfather of the author) was the patient of Paul Leopold Friedrich and Georg Perthes, who published their observations on the propositus. Except for an adopted daughter, the propositus was childless. His two affected brothers each had an affected child, and the father- to son transmission confirmed the hypothesis of autosomal dominant inheritance. The issue of nonpenetrance versus germinal mosaicism in ectrodactyly was debated by Auerbach [1956:Ann Hum Genet 20:266-269] and Vogel [1958:Ann Hum Genet 22:132-137], and remains unresolved.

[Hand surgery in German orthopedics]. / Handchirurgie in der deutschen Orthopädie.

The intention of this report is to present an overview of the development of hand surgery and its status in German orthopedics. An important role was played by orthopedics in the development of hand surgery: many insights and classifications in this field originate from orthopedic surgeons and retain their validity in this century. In the past few decades, traumatologists and plastic surgeons have become increasingly active in the field of hand surgery and have added to their surgical repertoire some fields formerly regarded as part of classic orthopedics, e.g., correction of malformations of the hand. Although microsurgical techniques of hand surgery were primarily developed by plastic surgeons, the past should nevertheless motivate all orthopedists to continue considering hand surgery the "pearl of orthopedics" in the future.

Brachydactyly, a possible inherited anomaly at prehistoric Prince Rupert Harbour.

Disproportionately short metacarpals or metatarsals in eight burial skeletons and three unusually short metapodials recovered as disturbed bones were identified in a 1500 B.C. to A.D. 500 skeletal series from eight archeological sites of the north mainland coast of British Columbia, Canada. At least ten people were affected from four sites for a minimum series frequency of 5.2%. Various factors clinically implicated in the occurrence of brachymetapody were investigated to account for the anomaly. Context-sensitive information suggested that trauma, infarction or infection, and individual or family-related malformation syndromes were unlikely possibilities. Some modern population data suggest that the series frequency was unusually high, particularly for fourth metatarsal involvement, the most commonly affected bone. Modern pedigree interpretations, ethnohistoric inferences, and the archeological contexts of the affected burial skeletons and site samples provide a framework for concluding that brachymetapody in the series was more likely due to the inheritance of an essentially isolated anomaly.