De la tératologie aux monstres de la mythologie et des légendes antiques

Stahl, A; Tourame, P.

doi:10.1016/j.arcped.2010.09.004

Cited by 12 publications

(6 citation statements)

References 7 publications

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“…Recent reviews of teratology and mythology by Cohen [2010b], and by Stahl and Tourame [2010] agreed with previous reviewers that real newborns with those defects existed in the origin of the mythological creatures and fantastic beings. Although there is no way to be sure of the population number at the year 800 BC in all the world, an educated guess suggested 66,000,000 [Mc Evedy and Jones, 1978], and another guess suggested a crude birth rate of 80 per 1,000 for this period (http://www.prb.org/Articles/2002/HowManyPeopleHaveEverLivedonEarth.aspx).…”

Section: Introductionmentioning

confidence: 63%

Cyclopia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research

Orioli

Amar²,

Bermejo‐Sánchez

et al. 2011

American J of Med Genetics Pt C

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Cyclopia is characterized by the presence of a single eye, with varying degrees of doubling of the intrinsic ocular structures, located in the middle of the face. It is the severest facial expression of the holoprosencephaly (HPE) spectrum. This study describes the prevalence, associated malformations, and maternal characteristics among cases with cyclopia. Data originated in 20 Clearinghouse (ICBDSR) affiliated birth defect surveillance systems, reported according to a single pre-established protocol. A total of 257 infants with cyclopia were identified. Overall prevalence was 1 in 100,000 births (95%CI: 0.89-1.14), with only one program being out of range. Across sites, there was no correlation between cyclopia prevalence and number of births (r = 0.08; P=0.75) or proportion of elective termination of pregnancy (r= −0.01; P=0.97). The higher prevalence of cyclopia among older mothers (older than 34) was not statistically significant. The majority of cases were liveborn (122/200; 61%) and females predominated (male/total: 42%). A substantial proportion of cyclopias (31%) were caused by chromosomal anomalies, mainly trisomy 13. Another 31% of the cases of cyclopias were associated with defects not typically related to HPE, with more hydrocephalus, heterotaxia defects, neural tube defects, and preaxial reduction defects than the chromosomal group, suggesting the presence of ciliopathies or other unrecognized syndromes. Cyclopia is a very rare defect without much variability in prevalence by geographic location. The heterogeneous etiology with a high prevalence of chromosomal abnormalities, and female predominance in HPE, were confirmed, but no effect of increased maternal age or association with twinning was observed.

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Section: Introductionmentioning

confidence: 63%

Cyclopia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research

Orioli

Amar²,

Bermejo‐Sánchez

et al. 2011

American J of Med Genetics Pt C

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“…Over time, these bird-women were portrayed as more aquatic creatures, and eventually with a full mermaid-like appearance. It is likely that creatures of classical and medieval mythology were inspired by the observation of real cases of human malformations (Kleiss, 1964; Stahl and Tourame, 2010), and it is likely that Sirens were similarly inspired. However, despite the present perception of Sirens as romantic and cute creatures, the sirenomelia human malformation is a severe condition.…”

Section: Sirenomelia: a Multisystemic Malformation With Wide Phenotypmentioning

confidence: 99%

A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations

Garrido-Allepuz

Haro

González‐Lamuño

et al. 2011

Disease Models &Amp; Mechanisms

160

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Sirenomelia, also known as sirenomelia sequence, is a severe malformation of the lower body characterized by fusion of the legs and a variable combination of visceral abnormalities. The causes of this malformation remain unknown, although the discovery that it can have a genetic basis in mice represents an important step towards the understanding of its pathogenesis. Sirenomelia occurs in mice lacking Cyp26a1, an enzyme that degrades retinoic acid (RA), and in mice that develop with reduced bone morphogenetic protein (Bmp) signaling in the caudal embryonic region. The phenotypes of these mutant mice suggest that sirenomelia in humans is associated with an excess of RA signaling and a deficit in Bmp signaling in the caudal body. Clinical studies of sirenomelia have given rise to two main pathogenic hypotheses. The first hypothesis, based on the aberrant abdominal and umbilical vascular pattern of affected individuals, postulates a primary vascular defect that leaves the caudal part of the embryo hypoperfused. The second hypothesis, based on the overall malformation of the caudal body, postulates a primary defect in the generation of the mesoderm. This review gathers experimental and clinical information on sirenomelia together with the necessary background to understand how deviations from normal development of the caudal part of the embryo might lead to this multisystemic malformation.

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“…Pictured or written descriptions probably facilitated the recording and/or historical recognition of a given VRD. Nevertheless, the large time‐lapse between occurrences in ancient populations probably allowed for magical or mythological thinking about such defects [Stahl and Tourame, 2010].…”

Section: Introductionmentioning

confidence: 99%

Sirenomelia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review

Orioli¹,

Amar²,

Arteaga‐Vázquez

et al. 2011

American J of Med Genetics Pt C

139

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Sirenomelia is a very rare limb anomaly in which the normally paired lower limbs are replaced by a single midline limb. This study describes the prevalence, associated malformations, and maternal characteristics among cases with sirenomelia. Data originated from 19 birth defect surveillance system members of the International Clearinghouse for Birth Defects Surveillance and Research, and were reported according to a single pre-established protocol. Cases were clinically evaluated locally and reviewed centrally. A total of 249 cases with sirenomelia were identified among 25,290,172 births, for a prevalence of 0.98 per 100,000, with higher prevalence in the Mexican registry. An increase of sirenomelia prevalence with maternal age less than 20 years was statistically significant. The proportion of twinning was 9%, higher than the 1% expected. Sex was ambiguous in 47% of cases, and no different from expectation in the rest. The proportion of cases born alive, premature, and weighting less than 2,500 g were 47%, 71.2%, and 88.2%, respectively. Half of the cases with sirenomelia also presented with genital, large bowel, and urinary defects. About 10-15% of the cases had lower spinal column defects, single or anomalous umbilical artery, upper limb, cardiac, and central nervous system defects. There was a greater than expected association of sirenomelia with other very rare defects such as bladder exstrophy, cyclopia/holoprosencephaly, and acardia-acephalus. The application of the new biological network analysis approach, including molecular results, to these associated very rare diseases is suggested for future studies.

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De la tératologie aux monstres de la mythologie et des légendes antiques

Cited by 12 publications

References 7 publications

Cyclopia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research

Cyclopia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research

A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations

Sirenomelia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review

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