Erratum à l'éditorial « Retour des peurs ancestrales avec le coronavirus, Covid-19 ¼ [Bull. Acad. Natl. Med. 6 (2020):541­542].

[This corrects the article DOI: 10.1016/j.banm.2020.04.007.].

[Pandemics: Lessons from the past]. / Pandémies : les leçons du passé.

Since Antiquity, pandemics periodically strike humanity. Plagues of Athens, galenic, justinianic, and medieval plagues provoked millions of deaths, and subsequent famines and socio-political changes. Smallpox was a scourge affecting the royal courts too. The influenza H1N1 of 1917 brought more deaths than the Great War. The decline of Europe benefited to the USA, dominant power during the XXth century. The present pandemic of coronavirus Covid-19 will have important economic consequences, some of then being unsuspected yet.

New case of Toriello-Carey syndrome.

A new syndrome was identified by Toriello and Carey (Am J Med Genet 31:17-23, 1988), based on the description of four children, three of whom were sibs. The main manifestations included agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and cardiac anomalies, brachydactyly, and hypotonia. We describe findings in a patient, presumed to be another case of the Toriello-Carey syndrome, which extend the phenotype of the syndrome.

Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3.

A two month-old girl was diagnosed as a case of Rubinstein-Taybi syndrome (RTS) on typical facial dysmorphism, broad and duplicated distal phalanges of thumbs and halluces, growth retardation and psychomotor development delay. Chromosome analysis demonstrated a de novo pericentric inversion of one chromosome 16: 46,XX,inv(16)(p13.3;q13). This association confirms assignment of a locus for RTS gene to 16p13.3, as two others translocations involving the same breakpoint have already been reported.

Medulloblastoma in the nevoid basal-cell carcinoma syndrome: case reports and review of the literature.

The nevoid basal-cell carcinoma syndrome (NBCCS) is a rare autosomal-dominant inherited disorder. Its clinical manifestations are multiple basal-cell nevi and cysts of the jaw along with skeletal anomalies and various combinations of numerous other defects. NBCCS is characterized by a marked propensity for developing cancers. One of the most frequently reported tumour is brain medulloblastoma. We are reporting two cases of NBCCS and medulloblastoma. A review of the case reports demonstrates certain prominent features of medulloblastoma associated with NBCCS. The patients generally are males, presenting at an unusually young age, under 5 or 2 years and show a longer survival rate. Its lay down to search for NBCCS in early medulloblastoma's, especially under 2 years.

Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review.

We report on three further cases of mildly retarded patients with marfanoid habitus and a pattern of minor anomalies. These patients are likely to be affected with the Lujan-Fryns syndrome. We have reviewed twenty cases from the literature for a better delineation of this newly recognized disorder.

Congenital marked hypertrichosis and Laband syndrome in a child: overlap between the gingival fibromatosis-hypertrichosis and Laband syndromes.

Gingival fibromatosis may be reported as an isolated finding or associated with a number of distinct and frequently inherited group of disorders. The characteristics of the Laband syndrome include gingival hyperplasia, dysplasia of the terminal phalanges and nails of extremities, hepatosplenomegaly and facial dysmorphism. Another well-known syndrome with gingival fibromatosis associates generalized hypertrichosis and inconstant mental retardation and epilepsy. We report a case with features of Laband syndrome and congenital marked hypertrichosis, suggesting overlap between these two genetic disorders.

Proteus syndrome in 7 patients: clinical and genetic considerations.

The Proteus syndrome is a congenital hamartomatous disorder delineated in 1983. Because of its polymorphic appearance, the syndrome was named after the greek god Proteus whose name means much less than the polymorphous much greater than. Major clinical findings include hemi hypertrophy, macrodactyly, exostoses, scoliosis, epidermal nevi, haemangiomas, deeply rugated soles of the feet and a variety of deep and subcutaneous masses. We report on 7 new cases of Proteus syndrome. All reported cases have been sporadic. Therefore this syndrome could be due to the action of a dominant lethal gene surviving by mosaicism.

Marfanoid features and craniosynostosis: report of one case and review.

A new syndrome was delineated by Shprintzen and Goldberg (1982) based on the description of two patients with scaphocephaly, facial dysmorphism, arachnodactyly, mental retardation and other connective tissue defects. Sugarman and Vogel (1981) reported another child with the same overall pattern of anomalies. A fourth patient with normal mental development was described by Furlong et al. (1987) as a new syndrome. We report on another example of marfanoid features associated with craniosynostosis. This boy has no mental retardation and the case seems to be similar to the Furlong case but different from the others because of the lack of mental retardation.

[Ultrastructural aspects of peripheral nerve lesions in one case of Farber's disease]. / Aspects ultrastructuraux des lésions du nerf périphérique dans un cas de maladie de Farber

The patient is a girl who had amyotrophia, dyspnea and juxta-articular nodes. She died at the age of 14 months. Ultrastructural examination of a sural nerve biopsy revealed anormal inclusions in the cytoplasm of numerous myelinated fibres. They are round or oval, and empty, sometimes with a great diameter. Some histiocytes show also such bodies. These are different from those seen in the other neurolipidosis.

[Current aspects of Turner syndrome]. / Actualité du syndrome de Turner.

Recent progress in the clinical, genetic and therapeutic knowledges of Turner's syndrome are presented. The quality of life of Turner's syndrome can be much improved by early treatment with recombinant human growth hormone which significantly increases the patient's final height, and appropriate oestrogenic therapy at pubertal and adult ages. However, this requires an early diagnosis. Consequently, a karyotype must be performed in every girl with delayed growth, even in the absence of clinical features of the Turner's syndrome.

[Smith-Magenis syndrome]. / Syndrome de Smith-Magenis.

BACKGROUND: The main features of the Smith-Magenis syndrome include broad flat midface, brachycephaly, broad nasal bridge, brachydactyly, hoarse deep voice, speech and developmental delay, and behavioral anomalies. This syndrome is due to interstitial deletion of chromosome 17p11.2. CASE REPORT: A 7-year-old girl was admitted for mental retardation. Clinical examination showed brachycephaly, broad flat midface, broad nasal bridge, malar hypoplasia, brachydactyly, decreased or absent deep tendon reflexes, and hoarse deep voice. She had a mild deafness, behavioral problems, and sleep disturbances. Chromosome analysis on lymphocytes identified a microdeletion of one chromosome subband 17p11.2. Molecular studies indicated loss of maternal allele. CONCLUSION: The Smith-Magenis syndrome is probably underdiagnosed because of its usually mild clinical features. High-resolution chromosome analysis is needed for diagnosis.

[Precocious puberty in children adopted from foreign countries]. / Puberté précoce chez des enfants adoptés de pays étrangers.

AIMS: Precocious puberty has been more frequently observed in the population of children adopted from abroad. A study was therefore carried out to assess the prevalence of this early onset of puberty. POPULATION AND METHODS: In this study, 13 cases of precocious puberty have been examined in ten adopted girls and three adopted boys, and the clinical characteristics and other contributing factors have been described. In this study group, three of the cases were familial. In addition, a questionnaire was also completed by 99 French families with children adopted from abroad, and analyzed to determine the frequency of early pubertal development. The parameters included were age, weight and height at the time of adoption, date of onset of puberty, for the girls age at first menstruation, and current height and weight. RESULTS: It was determined that the 13 children had a very high growth recovery rate from the time that they arrived in France. For the period from time of adoption to the onset of puberty, mean height increased from -1.3 to +1.5 standard deviation score (SDS) and the mean weight-for-height factor increased from +1.2 to 1.9 SDS. The weight-height recovery rate following adoption seems to be the direct cause of early pubertal development in certain children, notably in those with a particularly rapid growth rate (between 6 years 6 months and 8 years 9 months for the girls, and between 8 and 10 years for the boys). In children adopted at an early age, a 'biological memory' seems to exist regarding the renutrition phenomenon which was instrumental in accelerating the onset of puberty some years after adoption. An analysis of the survey on the adoptive families showed that the frequency of precocious puberty was 44.9% in the group of 49 girls compared to only 8.6% in the group of 35 adopted boys, and that it mainly concerned children from Africa (57%), followed by those from South and Central America (57%), Asia (45%), and Eastern Europe (29%). CONCLUSION: A higher rate of precocious puberty was found in the adopted girls, with a significantly lower rate in the adopted boys. The etiological factors involved seemed to be mainly nutritional, and influenced by leptin and insulin-like growth factor 1 (IGF1) levels. The role of the latter and their interaction with other factors, particularly the ethnic aspect, remains to be determined via the study of a larger series of adopted children.

[Study of sex determination gene (SRY) in 46,XY gonadal dysgenesis]. / Etude du gène du déterminisme du sexe (SRY) dans les dysgénésies gonadiques 46,XY.

During mammalian embryogenesis, the presence of the SRY gene determines the bipotential gonad to develop as a testis. 46,XY sex reversal has been described in man. It is associated with an essentially female phenotype and a streak gonad. In a collaborative study, we analysed 36 patients with a 46,XY sex reversal. The testis determining region of the Y chromosome was analysed by Southern blotting and by DGGE analysis of the SRY open reading frame (orf). We found a total of 7 mutations in the testis determining region including the SRY gene. This brings to 19 the total number of mutations in SRY associated with sex reversal. No relationship was found between the SRY status and the presence or absence of gonadoblastoma. However, a correlation was observed between the SRY genotype and the histology of the gonad. A mutant in SRY is associated with a completely dysgenetic gonad. The presence of immature testicular tubules is usually observed when SRY is normal. These latter results suggest the existence of as yet unidentified testis determining genes.

[Etiologic and biologic heterogeneity of growth hormone deficiency: significance of neuro-secretory dysfunction]. / Hétérogénéité étiologique et biologique des déficits en hormone de croissance: intérêt de la dysfonction neuro-sécrétoire.

The pharmacological tests and the 24 hours secretion permitted to accept 96 cases among a group of 301 children with short stature. The aetiologic parameters are numerous. There are too a great heterogeneity for the diagnostic criteria of GH deficiency: severe or partial, concordant or discordant between the two biologic methods with a new variety called neuro-secretory dysfunction with normal pharmacological tests and poor endogenous secretion.

[Williams syndrome (microdeletion 7q11.23), model of behavioral phenotype]. / Le syndrome de Williams (microdélétion 7q11.23), modèle de phénotype comportemental.

A specific behavioral phenotype is recognized in some genetic entities, particularly in microdeletion syndromes secondary to cytogenetically undetectable chromosomal deletions. Williams syndrome (WS) is a developmental disorder displaying dysmorphic signs, heart malformations and behavioral phenotype associated, in most cases, with a deletion of chromosome 7q11.23. We described physical and neuro-psychological assessment of nine cases of SW. Molecular studies were performed using Southern blot analyses or FISH, and identified a 7q11.23 deletion in all cases. Behavioral phenotype of WS is characterized by hyperactivity, engaging and jovial personality, hypersensitivity in hearing, and some elements of speech may be enhanced. Moderate mental retardation is frequently present. Previously reported studies have revealed specific cognitive deficits including deficits in language development and in long term memory, and poor visual-motor integration. Two genes, LIMK1 and STX1A, have been supposed to be implicated in determinism of WS behavioral phenotype. A specific behavioral phenotype is also demonstrated in others microdeletion syndromes, focusing attention on some chromosomal regions supposed to contain candidate genes involved in cognitive and behavioral traits.

[Malformations and genetics in art and culture]. / Malformations et maladies génétiques dans l'art et les cultures.

The cultural topic of malformations is universal by its questionning. Malformations and inherited diseases have been observed and represented since Antiquity. These sculptures and pictures inform about mentalities and behaviours in front of severe birth defects. Dysmorphic syndromes can be identifiable, like achondroplasia, whereas others dwarfisms are arguable. Hermaphroditism has a cosmic meaning. Failing that rational explanation, major abnormalities were considered as monsters of supernatural origin.