{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:57Z","timestamp":1761718077947,"version":"build-2065373602"},"reference-count":14,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1979,12]]},"abstract":"<jats:p>The clinical and radiological features of a male child with multiple malformations are described. He appears to be an example of a new syndrome recently described by Schinzel and Giedion (1978).<\/jats:p>","DOI":"10.1136\/jmg.16.6.483","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"483-486","source":"Crossref","is-referenced-by-count":34,"title":["A further case of a new syndrome including midface retraction, hypertrichosis, and skeletal anomalies."],"prefix":"10.1136","volume":"16","author":[{"given":"D","family":"Donnai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Harris","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1979,12,1]]},"reference":[{"key":"ref_1","article-title":"This patient was born in January 1978, the result of","volume-title":"Ein fall von testicularer the third pregnancy of healthy, non-consanguineous, 26-year-old parents. Previous pregnancies had feminisierung mit dem Karyotyp 47, XXY. Human Genetics, resulted in a miscarriage at 3 months","year":"1976","unstructured":"This patient was born in January 1978, the result of Bartsch-Sandhoff, M., Stephan, L., Rohrborn, G., Pawlowitzki, 1. H., and Scholz, W. (1976). Ein fall von testicularer the third pregnancy of healthy, non-consanguineous, 26-year-old parents. Previous pregnancies had feminisierung mit dem Karyotyp 47,XXY. Human Genetics, resulted in a miscarriage at 3 months' gestation and"},{"key":"ref_2","first-page":"2638","article-title":"Sur une nouvelle technique d'analyse du caryotype humain. Comptes Rendus Hebdomadaires des Seances de l'Academie des","volume":"272","author":"Dutrillaux, B.; Lejeune, J.","year":"1971","unstructured":"Dutrillaux, B., and Lejeune, J. (1971). Sur une nouvelle technique d'analyse du caryotype humain. Comptes Rendus Hebdomadaires des Seances de l'Academie des Sciences, 272, 2638-2640.","journal-title":"Sciences"},{"key":"ref_3","first-page":"5","article-title":"the birth in 1975 of a female who, at the age of 3 years, is of normal appearance and development. The mother is now pregnant for the fourth time. In the pregnancy leading to the birth of our","volume":"9","author":"patient, German; J.; Vesell, M.","year":"1966","unstructured":"the birth in 1975 of a female who, at the age of 3 years, is of normal appearance and development. The mother is now pregnant for the fourth time. In the pregnancy leading to the birth of our patient, German, J., and Vesell, M. (1966). Testicular feminization in amniocentesis was performed without complication monozygotic twins with 47 chromosomes (XXY). Annales de Genetique, 9, 5-8.","journal-title":"Annales de Genetique; Testicular feminization in amniocentesis was performed without complication monozygotic twins with 47 chromosomes (XXY"},{"issue":"6","key":"ref_4","article-title":"Sex chromosome mosaicism in the testicular syndrome. A normal male fetal karyotype was feminization syndrome","volume":"34","author":"E, L.","year":"1969","unstructured":"L. E. (1969). Sex chromosome mosaicism in the testicular syndrome. A normal male fetal karyotype was feminization syndrome. Obstetrics and Gynecology, 34, 6, reported. There is no other known family history of","journal-title":"Obstetrics and Gynecology; reported. There is no other known family history of"},{"key":"ref_5","article-title":"Locus on human X chromosome for dihydrotestosterone birth defect. There was no history of infection or exposure to drugs, and spontaneous vertex delivery receptor and androgen insensitivity. Proceedings of the of a male infant weighing 3-5 kg occurred at 41 weeks","author":"Meyer, W.J.; Migeon, B.R.; Migeon, C.J.","year":"1975","unstructured":"Meyer, W. J., Migeon, B. R., and Migeon, C. J. (1975). Locus on human X chromosome for dihydrotestosterone birth defect. There was no history of infection or exposure to drugs, and spontaneous vertex delivery receptor and androgen insensitivity. Proceedings of the of a male infant weighing 3 - 5 kg occurred at 41 weeks"},{"key":"ref_6","first-page":"135","article-title":"C bands in human metaphase chromosome treated by barium hydroxide","volume":"17","author":"Salamanca, F.; Armendares, S.","year":"1974","unstructured":"Salamanca, F., and Armendares, S. (1974). C bands in human metaphase chromosome treated by barium hydroxide. Annales de Genetique, 17, 135-136.","journal-title":"Annales de Genetique"},{"key":"ref_7","first-page":"193","article-title":"and The infant was transferred after birth to the Special Care Baby Unit because of hiis unusual appearance. He was noted to have an odd face, hypospadias, and Furujama, Y","volume":"54","author":"Uozumi, T.; Nozaki, R.; Matsumoto, K.; Seki, T.","year":"1967","unstructured":"Uozumi, T., Nozaki, R., Matsumoto, K., Seki, T., and The infant was transferred after birth to the Special Care Baby Unit because of hiis unusual appearance. He was noted to have an odd face, hypospadias, and Furujama, Y. (1967). Endocrinological studies of a case bilateral talipes equinovarus. The right kidney was of mosaicism (XO\/XY\/XXY) with clinical appearance of testicular feminization syndrome. Acta Endocrinologica, 54, 193-207.","journal-title":"Acta Endocrinologica; Endocrinological studies of a case bilateral talipes equinovarus. The right kidney was of mosaicism (XO\/XY\/XXY) with clinical appearance of testicular feminization syndrome"},{"article-title":"SUMMARY The clinical and radiological features of a male child with multiple malformations are described. He appears to be an example of a new syndrome recently described by Schinzel and Giedion","year":"1978","key":"ref_8","unstructured":"SUMMARY The clinical and radiological features of a male child with multiple malformations are described. He appears to be an example of a new syndrome recently described by Schinzel and Giedion (1978)."},{"key":"ref_9","article-title":"goloid slant of the palpebral fissures, proptosis, and the pupils, which were small, did not react to light. The nasal bridge was depressed and the nose upturned with multiple telangiectases over the nose and cheeks. The ears were low set, posteriorly rotated, and had protruding lobes. The foreskin was hooded with a ventrally placed meatus. The testes were in the We report a further case of a syndrome recently scrotum. There was bilateral talipes equinovarus, described by Schinzel and Giedion","volume-title":"consisting dimples on both elbows and the right knee, and the of midface retraction, club feet, hypertrichosis, nails were hyperconvex (Fig. 3). The kidneys were enlarged. The heart was normal on auscultation and no murmurs were heard","year":"1978","unstructured":"goloid slant of the palpebral fissures, proptosis, and the pupils, which were small, did not react to light. The nasal bridge was depressed and the nose upturned with multiple telangiectases over the nose and cheeks. The ears were low set, posteriorly rotated, and had protruding lobes. The foreskin was hooded with a ventrally placed meatus. The testes were in the We report a further case of a syndrome recently scrotum. There was bilateral talipes equinovarus, described by Schinzel and Giedion (1978) consisting dimples on both elbows and the right knee, and the of midface retraction, club feet, hypertrichosis, nails were hyperconvex (Fig. 3). The kidneys were enlarged. The heart was normal on auscultation and no murmurs were heard."},{"key":"ref_10","article-title":"In their report of a new multiple congenital anomaly syndrome, Schinzel and","year":"1978","unstructured":"In their report of a new multiple congenital anomaly syndrome, Schinzel and Giedion (1978) stated that","journal-title":"Giedion"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1002\/ajmg.1320010402","article-title":"A syndrome of severe midface retraction, multiple skull anomalies, clubfeet and cardiac and renal malformations in sibs","volume":"1","author":"Schinzel, A.; Giedion, A.","year":"1978","unstructured":"Schinzel, A., and Giedion, A. (1978). A syndrome of severe midface retraction, multiple skull anomalies, clubfeet and cardiac and renal malformations in sibs. American Journal of Medical Genetics, 1, 361-375.","journal-title":"American Journal of Medical Genetics"},{"key":"ref_12","article-title":"defined a syndrome as Roberts's syndrome. The most prominent symptoms of Roberts's syndrome (Roberts, 1919) are low birthweight, tetraphocomelia, cleft lip and palate, dysmorphia, failure to thrive, vitium cordis, and low life expectancy. A similar condition has been described under the names of pseudothalidomide or SC syndrome by Hermann and Opitz","author":"In 1966, Appelt","year":"1977","unstructured":"In 1966, Appelt et al. defined a syndrome as Roberts's syndrome. The most prominent symptoms of Roberts's syndrome (Roberts, 1919) are low birthweight, tetraphocomelia, cleft lip and palate, dysmorphia, failure to thrive, vitium cordis, and low life expectancy. A similar condition has been described under the names of pseudothalidomide or SC syndrome by Hermann and Opitz (1977)."},{"key":"ref_13","article-title":"Roberts's syndrome is a rare condition and only a few papers on it have been published since 1966 (for review see Freeman","author":"Hermann; Opitz","year":"1974","unstructured":"Roberts's syndrome is a rare condition and only a few papers on it have been published since 1966 (for review see Freeman et al., 1974; Hermann and Opitz, 1977). We observed a boy recently with Roberts's syndrome. Our observations add another case to previously reported publications and we consider the question of the relationship between our patient's abnormalities and clonidine.","journal-title":"et al; We observed a boy recently with Roberts's syndrome. Our observations add another case to previously reported publications and we consider the question of the relationship between our patient's abnormalities and clonidine"},{"key":"ref_14","unstructured":"The course of the pregnancy, apart from the hypertension, was normal. The child was born by caesarean section at 36 weeks' gestation on 2 July 1977. Weight at birth was 1300 g, length 33 cm. At physical examination the following abnormalities","article-title":"The course of the pregnancy, apart from the hypertension, was normal. The child was born by caesarean section at 36 weeks' gestation on 2 July 1977. Weight at birth was 1300 g, length 33 cm. At physical examination the following abnormalities"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.16.6.483","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:51:36Z","timestamp":1760737896000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.16.6.483"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1979,12]]},"references-count":14,"journal-issue":{"issue":"6","published-online":{"date-parts":[[1979,12,1]]},"published-print":{"date-parts":[[1979,12]]}},"alternative-id":["10.1136\/jmg.16.6.483"],"URL":"https:\/\/doi.org\/10.1136\/jmg.16.6.483","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1979,12]]}}}