{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:39:33Z","timestamp":1760729973143,"version":"build-2065373602"},"reference-count":22,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1979,4]]},"abstract":"<jats:p>Two sibs who both had anencephaly and diaphragmatic hernia are reported. The type of diaphragmatic defect seen in anencephaly may differ from the defect seen in other babies. It is important to perform a necropsy in anencephaly.<\/jats:p>","DOI":"10.1136\/jmg.16.2.157","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"157-159","source":"Crossref","is-referenced-by-count":18,"title":["Anencephaly with diaphragmatic hernia in sibs."],"prefix":"10.1136","volume":"16","author":[{"given":"T J","family":"David","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V M","family":"Parker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C A","family":"Illingworth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1979,4,1]]},"reference":[{"key":"ref_1","article-title":"Trisomy 13 has been well recognised since the first modern description by Patau","year":"1960","unstructured":"Trisomy 13 has been well recognised since the first modern description by Patau et al. (1960). This boy shows many of the clinical features of the syndrome and several are associated with a poor prognosis.","journal-title":"et al; This boy shows many of the clinical features of the syndrome and several are associated with a poor prognosis"},{"key":"ref_2","article-title":"In the review by Magenis","year":"1968","unstructured":"In the review by Magenis et al. (1968), it was noted","journal-title":"et al"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1136\/jmg.15.1.48","article-title":"Clinical experience with trisomies 18 and 13","volume":"15","author":"Hodes, M.E.; Cole, J.; Palmer, C.G.; Reed, T.","year":"1978","unstructured":"Hodes, M. E., Cole, J., Palmer, C. G., and Reed, T. (1978). Clinical experience with trisomies 18 and 13. Journal of Medical Genetics, 15, 48-60.","journal-title":"Journal of Medical Genetics"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1016\/S0022-3476(68)80072-1","article-title":"Trisomy 13 (D) syndrome: studies on parental age, sex ratio and survival","volume":"73","author":"Magenis, R.E.; Hecht, F.; Milham, Jr, S.","year":"1968","unstructured":"Magenis, R. E., Hecht, F., and Milham, S., Jr. (1968). Trisomy 13 (D) syndrome: studies on parental age, sex ratio and survival. Journal of Pediatrics, 73, 222-228.","journal-title":"Journal of Pediatrics"},{"key":"ref_5","first-page":"157","article-title":"Trisomy 13 in a that those with chromosomal mosaicism, or with a Robertsonian translocation, tended to survive longer than those with primary trisomy","volume":"13","author":"Mankinen, C.B.; Sears, J.W.","year":"1976","unstructured":"Mankinen, C. B., and Sears, J. W. (1976). Trisomy 13 in a that those with chromosomal mosaicism, or with a Robertsonian translocation, tended to survive longer than those with primary trisomy. However, Hodes et al. (1978) did not find any difference in female of over 5 years of age. Journal of Medical Genetics, 13, 157-161.","journal-title":"However, Hodes et al; did not find any difference in female of over 5 years of age"},{"key":"ref_6","first-page":"790","article-title":"Multiple congenital anomaly caused by an extra chromosome","volume":"1","author":"Patau, K.; Smith, D.W.; Therman, E.; Inhorn, S.L.; Wagner, H.P.","year":"1960","unstructured":"Patau, K., Smith, D. W., Therman, E., Inhorn, S. L., and Wagner, H. P. (1960). Multiple congenital anomaly caused by an extra chromosome. Lancet, 1, 790-793.","journal-title":"Lancet"},{"key":"ref_7","first-page":"971","article-title":"survival rates between their cases of translocation and primary trisomics. Among the cases in published reports with survival beyond 5 years, Smith","volume":"2","year":"1964","unstructured":"survival rates between their cases of translocation and primary trisomics. Among the cases in published reports with survival beyond 5 years, Smith (1964, 1976) mentioned a child of 5 years and an adult of Seabright, M. (1971). A rapid banding technique for human chromosomes. Lancet, 2, 971-972.","journal-title":"Lancet; mentioned a child of 5 years and an adult of Seabright, M"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1055","DOI":"10.1016\/0002-9378(64)90835-X","article-title":"Autosomal abnormalities","volume":"90","author":"Smith, D.W.","year":"1964","unstructured":"Smith, D. W. (1964). Autosomal abnormalities. American Journal of Obstetrics and Gynecology, 90, 1055-1077.","journal-title":"American Journal of Obstetrics and Gynecology"},{"key":"ref_9","article-title":"Recognisable Patterns of Human","author":"Smith, D.W.","year":"1976","unstructured":"Smith, D. W. (1976). Recognisable Patterns of Human"},{"key":"ref_10","article-title":"but did not give any indication of the cytogenetic findings","author":"years","year":"1968","unstructured":"years, but did not give any indication of the cytogenetic findings. Magenis et al. (1968) reported a girl aged 10 with trisomy D, but gave no details of cytogenetic studies. Mankinen and Sears (1976)","journal-title":"Magenis et al; reported a girl aged 10 with trisomy D, but gave no details of cytogenetic studies"},{"key":"ref_11","article-title":"Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome","volume":"5","author":"Taylor, A.","year":"1968","unstructured":"Taylor, A. 1. (1968). Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome. Journal of Medical Genetics, 5, and Hodes et al. (1978) each reported a girl aged 227-252.","journal-title":"Journal of Medical Genetics; each reported a girl aged 227-252"},{"key":"ref_12","article-title":"it is most probable that these 8 cells represent hernia in sibs those originally with 2n = 47, XY+D, but with subsequent random chromosome loss. Our patient is unusual, therefore, in surviving as long as he has, SUMMARY Two sibs who both had anencephaly since he is now 9 years of age. There may be several and diaphragmatic hernia are reported. The type factors to account for this. It has been stated that of diaphragmatic defect seen in anencephaly may surgery should not be considered in early infancy in differ from the defect seen in other babies. It is children with Patau's syndrome","volume-title":"and important to perform a necropsy in anencephaly","author":"Hence","year":"1976","unstructured":"Hence, it is most probable that these 8 cells represent hernia in sibs those originally with 2n = 47, XY+D, but with subsequent random chromosome loss. Our patient is unusual, therefore, in surviving as long as he has, SUMMARY Two sibs who both had anencephaly since he is now 9 years of age. There may be several and diaphragmatic hernia are reported. The type factors to account for this. It has been stated that of diaphragmatic defect seen in anencephaly may surgery should not be considered in early infancy in differ from the defect seen in other babies. It is children with Patau's syndrome (Smith, 1976) and important to perform a necropsy in anencephaly."},{"key":"ref_13","article-title":"Diaphragmatic hernia is not usually familial, but a few such cases have been recorded, and it has been suggested that the defect is inherited recessively in certain animals","volume-title":"Anencephaly has frequently been found to recur in sibships, but the combination of the two defects has not previously been reported in successive pregnancies. However, there is a report of monozygous female triplets with craniorachischisis (Scott and Paterson, 1966). The first triplet had a 'centrally situated' left diaphragmatic hernia, with the stomach, intestine, and spleen in the thorax. The second triplet had a hernia which was similar but larger, and the 'medial part' of the diaphragm was absent as well. The third triplet had intact diaphragms. The placenta was triamniotic and monochorionic, there was a linked circulation, and the blood groups were identical","author":"Thomas","year":"1976","unstructured":"Diaphragmatic hernia is not usually familial, but a few such cases have been recorded, and it has been suggested that the defect is inherited recessively in certain animals (David and Illingworth, 1976; Thomas et al., 1976). Anencephaly has frequently been found to recur in sibships, but the combination of the two defects has not previously been reported in successive pregnancies. However, there is a report of monozygous female triplets with craniorachischisis (Scott and Paterson, 1966). The first triplet had a 'centrally situated' left diaphragmatic hernia, with the stomach, intestine, and spleen in the thorax. The second triplet had a hernia which was similar but larger, and the 'medial part' of the diaphragm was absent as well. The third triplet had intact diaphragms. The placenta was triamniotic and monochorionic, there was a linked circulation, and the blood groups were identical."},{"key":"ref_14","article-title":"Whether anencephaly with diaphragmatic hernia is a separate entity from anencephaly without it remains to be seen. Close attention to other defects in anencephaly, with a necropsy, is easily justifiable on the grounds that aetiologically distinct entities (Holmes et","year":"1976","unstructured":"Whether anencephaly with diaphragmatic hernia is a separate entity from anencephaly without it remains to be seen. Close attention to other defects in anencephaly, with a necropsy, is easily justifiable on the grounds that aetiologically distinct entities (Holmes et al., 1976) will otherwise escape detection. There is a suspicion that fewer anencephalics are being necropsied than was previously the case, and if this is true it is unfortunate.","journal-title":"al; will otherwise escape detection. There is a suspicion that fewer anencephalics are being necropsied than was previously the case"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1136\/jmg.13.4.253","article-title":"Diaphragmatic hernia in the south-west of England","volume":"13","author":"David, T.J.; Illingworth, C.A.","year":"1976","unstructured":"David, T. J., and Illingworth, C. A. (1976). Diaphragmatic hernia in the south-west of England. Journal of Medical Genetics, 13, 253-262.","journal-title":"Journal of Medical Genetics"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1136\/jmg.13.4.263","article-title":"Congenital malformations associated with anencephaly and iniencephaly","volume":"13","author":"David, T.J.; Nixon, A.","year":"1976","unstructured":"David, T. J., and Nixon, A. (1976). Congenital malformations associated with anencephaly and iniencephaly. Journal of Medical Genetics, 13, 263-265.","journal-title":"Journal of Medical Genetics"},{"key":"ref_17","first-page":"359","article-title":"The embryological basis for the treatment of congenital defects","volume-title":"Embryology for Surgeons","author":"Gray, S.W.; Skandalakis, J.E.","year":"1972","unstructured":"Gray, S. W., and Skandalakis, J. E. (1972). The embryological basis for the treatment of congenital defects. In Embryology for Surgeons, pp. 359-385. Saunders, Philadelphia."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1056\/NEJM197602122940704","article-title":"Etiologic heterogeneity of neural-tube defects","volume":"294","author":"Holmes, L.B.; Driscoll, S.G.; Atkins, L.","year":"1976","unstructured":"Holmes, L. B., Driscoll, S. G., and Atkins, L. (1976). Etiologic heterogeneity of neural-tube defects. New England Journal of Medicine, 294, 365-369.","journal-title":"New England Journal of Medicine"},{"key":"ref_19","first-page":"149","author":"Lemire, R.J.; Beckwith, J.B.; Warkany, J.","year":"1978","unstructured":"Lemire, R. J., Beckwith, J. B., and Warkany, J. (1978). Anencephaly, pp. 149-261. Raven Press, New York.","journal-title":"Anencephaly"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1111\/j.1471-0528.1966.tb05134.x","article-title":"Monozygous anencephalic triplets-a case report","volume":"73","author":"Scott, J.M.; Paterson, L.","year":"1966","unstructured":"Scott, J. M., and Paterson, L. (1966). Monozygous anencephalic triplets-a case report. Journal of Obstetrics and Gynaecology of the British Commonwealth, 73, 147-151.","journal-title":"Journal of Obstetrics and Gynaecology of the British Commonwealth"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1016\/S0022-3468(76)80206-0","article-title":"Bilateral congenital diaphragmatic defects in two siblings","volume":"11","author":"Thomas, M.P.; Stern, L.M.; Morris, L.L.","year":"1976","unstructured":"Thomas, M. P., Stern, L. M., and Morris, L. L. (1976). Bilateral congenital diaphragmatic defects in two siblings. Journal of Pediatric Surgery, 11, 465-467.","journal-title":"Journal of Pediatric Surgery"},{"key":"ref_22","article-title":"Harvey Cushing (1916), the well known neurosurgeon, investigated a family in which the affected members could not flex the proximal interphalangeal joints of the hand. H4e recognised that this malformation was genetically determined and coined the term symphalangism. Since then, a number of genetic syndromes have been described","volume-title":"in which symphalangism is one of the major findings. Recently, we had the opportunity to study a young","year":"1978","unstructured":"Harvey Cushing (1916), the well known neurosurgeon, investigated a family in which the affected members could not flex the proximal interphalangeal joints of the hand. H4e recognised that this malformation was genetically determined and coined the term symphalangism. Since then, a number of genetic syndromes have been described (McKusick, 1978) in which symphalangism is one of the major findings. Recently, we had the opportunity to study a young"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.16.2.157","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:13:04Z","timestamp":1759723984000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.16.2.157"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1979,4]]},"references-count":22,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1979,4,1]]},"published-print":{"date-parts":[[1979,4]]}},"alternative-id":["10.1136\/jmg.16.2.157"],"URL":"https:\/\/doi.org\/10.1136\/jmg.16.2.157","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1979,4]]}}}