A review of supernumerary and absent limbs and digits of the upper limb.

For years people have been enamored by anomalies of the human limbs, particularly supernumerary and absent limbs and digits. Historically, there are a number of examples of such anomalies, including royal families of ancient Chaldea, tribes from Arabia, and examples from across nineteenth century Europe. The development of the upper limbs in a growing embryo is still being elucidated with the recent advent of homeobox genes, but researchers agree that upper limbs develop between stages 12-23 through a complex embryological process. Maternal thalidomide intake during limb development is known to cause limb reduction and subsequent amelia or phocomelia. Additionally, a number of clinical reports have illustrated different limb anomaly cases, with each situation unique in phenotype and developmental abnormality. Supernumerary and absent limbs and digits are not unique to humans, and a number of animal cases have also been reported. This review of the literature illustrates the historical, anatomical, and clinical aspects of supernumerary and absent limbs and digits for the upper limb.

[The thalidomide experience: review of its effects 50 years later]. / Talidomida: 50 años después.

This year is the 50(th) anniversary of the discovery that the drug thalidomide causes birth defects and should therefore be considered as a teratogen. However, despite the existence of several other drugs that are also human teratogens, thalidomide continues to cause concern among health professionals as well as the general population. The objectives of this article are to make a short historical review of the discovery that this drug severely alters the embryo development, the critical period of gestation and the identification of the real effect of thalidomide. For the first time an analysis is provided to identify the type of malformations for which thalidomide really increases the risk. The proportions of the different types of malformations groups from the series of patients considered to be affected by thalidomide from the literature were compared with the proportions of the same malformations groups in non-exposed infants from the Spanish Collaborative Study of Congenital Malformation (ECEMC). The aim of the analysis was to calculate the relative frequencies of 13 groups of malformations observed in series of patients exposed to thalidomide, by comparison with the same groups of defects in 1,491 patients with limb malformations from the ECEMC consecutive newborn infants, non-exposed to thalidomide. The results showed that the groups with the most classical limb malformations attributed to thalidomide (phocomelia, thumb absence/hypoplasia) had a significantly very higher frequency in exposed cases than in the ECEMC's cases. However, cases presenting with only lower limb malformations were 3 times less frequent in thalidomide cases than in those of ECEMC. Finally, other groups presented the same frequency as those observed in the ECEMC's cases. The results of the 2 last groups, strongly suggests that they were not due to the effect of thalidomide. In addition to the short historical review of the teratogenicity risk of thalidomide, and their new therapeutic properties, it is documented that, as it happens with all other currently known human teratogens, not all malformations observed in infants prenatally exposed to thalidomide were caused by this drug. Finally, it is discussed the paradox that the «feared¼ thalidomide drug causing a great human drama affecting about 10,000 infants has led to a formidable contribution to the scientific knowledge, and large range of therapeutic applications.

Beyond the myth: the mermaid syndrome from Homerus to Andersen. A tribute to Hans Christian Andersen's bicentennial of birth.

Mermaid or sirens have been part of the cultural tradition of the sailors during the first expeditions in the western world. The Siren's Myth appeared for a first time with Homer, who described in the Odyssey some singing creatures that lured the enchanted sailors to death. More frequently described with a bird body and a female head, sometimes the female part was extended to torso, with arms prolonged in sturdy claws. In the Latin literature Publius Ovidius Naso presented in the Métamorphoses these creatures. Proposed ethymology for the word "siren" seems to confirm the prerogatives of these creatures, related to magnetism, seduction, charm. The first figuration of Sirens resembling to fish-women was in the second century bc. Hans Christian Andersen provided to leave us the strongest legend of Siren in the well-known fairy tale "The Little Mermaid". Following this story, Sirens are definitely considered as beautiful half-fish women who lived in the bottom of the sea, having a lovely voice to be used when they rise up to allow sweeter the agony of the wrecked sailors. Beyond the Myth, may the Siren really exist? It can be hypothesized that these creatures probably were individuals affected by sirenomelia. In our literature and medical review, we describe the etiology of the disease, and we illustrated the anatomical features of fetuses affected by this pathology using MDCT 3D reconstructions. Syrenomelia is a condition not compatible with the normal life, however nine cases of "mermaid" survived to reconstructive surgery have been reported until now. In our report we also presented a case of survival baby girl affected by sirenomelia, before and after surgery, with correlative radiologic imaging findings. The most important characteristic that seems to allow survival of the affected individuals is the presence of one functional kidney, displaced in pelvis. As so dramatically tragic was the history of the Andersen Little Mermaid, so unattended pleasant would be the destiny of a modern mermaid, who can hope to finally marry her prince, without the risk to "loose her head", as the Copenhagen City's Symbol did in the past years, for a story beyond the Myth.

Autopsy on a case of Roberts syndrome reported in 1672: the earliest description?

In 1672, François Bouchard reported the autopsy of a male infant discovered on public exhibition at Leiden. The findings of tetraphocomelia more severe in the upper limbs with reduction in the number and length of digits, hydrocephalus, bilateral cleft lip, micrognathia, and cryptorchidism are consistent with a diagnosis of Roberts syndrome. Bouchard did not find internal abnormalities other than hydrocephalus, which he attempted to demonstrate by showing decreased specific gravity of the brain. Death was due to umbilical vein hemorrhage following birth trauma.

Alice Vance ("Das Bärenweib"): a historical case of Nievergelt syndrome.

Several malformed individuals were presented at the World Exhibition in Antwerp in 1894. Among them was Mrs. Alice Vance from Mount Pleasant, Texas, with congenital limb defects, and Mr. Eugen Berry, who had asymmetrical, monstrous enlargement and macrodactyly of the feet, i.e., Proteus syndrome. After the World Exhibition Mrs. Vance presented herself to the public in Castan's Panopticon imitating a bear. She became famous under the stage name "Das Bärenweib" ("the bear-like woman") and was examined by several German clinicians, and her malformations were considered to be of high scientific interest. Mrs. Vance had mesomelic dwarfism and her mother was known to have similar malformations. Her limb deficiencies were generally considered a unique congenital condition those days, and the diagnosis of "a maternally inherited malformation of the forearms and the shanks" [Daffner 1898: Munch Med Wochenschr 25:782] was made. Virchow [1897: Verh Berl Ges Ethnol Urgeschichte 29:624], feeling attacked by a daily newspaper stating that the physicians as well as the police of Berlin had missed the diagnosis of an "English disease," eventually exercised his authority and diagnosed Alice Vance as a "phocomelic." Clearly, she was not a phocomelic according to past and current definition of this term. Thus, from a historical point of view, the story illustrates how pressure from the daily press altered the definition of an up-to-then precisely defined medical term for decades. According to the clinical data and an X-ray report available from the literature, Alice Vance had a dominantly inherited type of mesomelic dwarfism. We propose the diagnosis of Nievergelt syndrome.

Tetraphocomelia and bilateral cleft lip in a historical case of Roberts syndrome [Virchow, 1898].

We discuss an unlabelled specimen of tetraphocomelia and bilaterally cleft lip from the former Virchow Museum of our Medical School. Identity of the subject with a case of what was later termed "Roberts syndrome" published by Rudolf Virchow in 1898 is demonstrated. Rediscovery of this important historical case is gratifying, since almost 95% of the specimens of Virchow's collection were lost during World War II. We have restudied Virchow's case. Recent CT scan images of the fetus are presented. We review data from the literature and present new clinical details. The fate of the original clinical data after passing through three reviews is documented briefly. We also reconstruct Virchow's view on phocomelia and its consequences for later research.

[Sculptor of The Cripple of the Geneva Museum of Art and History. An ancient Greek portrayal of hemimelia?]. / Autour de l'estropié du Musée d'art et histoire de Genève. Une représentation archaique grecque d'hémimélie?

An archaic Greek terracotta vase in the Art and History Museum at Geneva depicts a man deprived of his left arm and with two legs ending in a stump below the knees. Did he suffer from a traumatism (amputation), a mutilating disease or congenital malformation (hemimelia)? A survey of written and iconographic sources throws light on the methods and limits of ancient surgery, and on the chances of survival of abnormal children in archaic and classical Greece.

Distal phocomelia of the forearm in a thirteenth-century skeleton from Poland.

The skeleton of a 35- to 40-year-old male (A.D. 1250 to 1300) with distal phocomelia (intercalary transverse) of the right forearm and severe (90-100 degrees) right-sided scoliosis is examined. Congenital malformation of the the right forearm resulted in absence of the radius and ulna, and attachment of the upper arm and hand to the trunk. Lesser abnormalities consist of a-hypoplastic right scapula and misshapened ribs and sternum. This rare deformity reflects the variability and antiquity of congenital malformations of the upper limb.