{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,8]],"date-time":"2026-02-08T20:34:11Z","timestamp":1770582851943,"version":"3.49.0"},"reference-count":34,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1988,2]]},"abstract":"<jats:p>We report eight cases of a lethal association of failure to thrive, facial dysmorphism, ambiguous genitalia, syndactyly, postaxial polydactyly, and internal developmental anomalies (Hirschsprung's disease, cardiac and renal malformation). This syndrome is likely to be autosomal recessive and resembles Smith-Lemli-Opitz (SLO) syndrome. However, the lethality, the common occurrence of polydactyly, and the sexual ambiguity distinguishes this condition from SLO syndrome. A review of published reports supports the separate classification of this syndrome for which we propose the name lethal acrodysgenital dwarfism.<\/jats:p>","DOI":"10.1136\/jmg.25.2.88","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"88-95","source":"Crossref","is-referenced-by-count":31,"title":["Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome."],"prefix":"10.1136","volume":"25","author":[{"given":"M L","family":"Merrer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M L","family":"Briard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Girard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Mulliez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Moraine","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M C","family":"Imbert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1988,2,1]]},"reference":[{"key":"ref_1","first-page":"187","article-title":"Une etiologie meconnue de l'ambiguit6 sexuelle: syndrome de Smith-Lemli-Opitz ou entite nouvelle?","volume":"35","author":"M, Le Merrer; ML, Briard; ML, Chauvet","year":"1987","unstructured":"Le Merrer M, Briard ML, Chauvet ML. Une etiologie meconnue de l'ambiguit6 sexuelle: syndrome de Smith-Lemli-Opitz ou entite nouvelle? J Genet Hum 1987;35:187-93.","journal-title":"J Genet Hum"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1001\/archinte.1973.03650090094017","article-title":"Smith Lemli Opitz syndrome in a 23-year-old man","volume":"132","author":"Deaton, J.G.; Austin, T.; Mendoza, L.O.; Tex, M.","year":"1973","unstructured":"Deaton JG, Austin T, Mendoza LO, Tex M. Smith Lemli Opitz syndrome in a 23-year-old man. Arch Intern Med 1973;132: 422-3.","journal-title":"Arch Intern Med"},{"issue":"2","key":"ref_3","first-page":"163","article-title":"Der typus rostockiensis UllrichFeichtiger","volume":"1960","author":"Weber, V.J.W.; Schwarz, H.","unstructured":"Weber VJW, Schwarz H. Der typus rostockiensis UllrichFeichtiger. Dyskranio-pygo-phalangie. Helv PaediatrActa 1960; 2:163-70.","journal-title":"Dyskranio-pygo-phalangie. Helv PaediatrActa"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1007\/978-3-642-94579-3_11","article-title":"Der statut bonnevie-Ullrich im rahmen anderer 'dyscranio-dysphalangien'","volume-title":"Inneren Medizin und Kinderheilkunde","author":"0, Ullrich-Bonn","year":"1951","unstructured":"Ullrich-Bonn 0. Der statut bonnevie-Ullrich im rahmen anderer 'dyscranio-dysphalangien'. In: Assmann H, Schittenhelm A, Schoen R, Glanzmann E, De Rudder B, eds. Ergebnisse der Inneren Medizin und Kinderheilkunde. Berlin: Springer-Verlag, 1951:456-8."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1016\/S0022-3476(72)80302-0","article-title":"Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies","volume":"81","author":"Townes, P.L.; Brocks, E.R.","year":"1972","unstructured":"Townes PL, Brocks ER. Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies. J Pediatr 1972;81: 321-6.","journal-title":"J Pediatr"},{"key":"ref_6","first-page":"176","article-title":"Gibt es ein syndrome nach Ullrich und Feichtiger?","volume":"187","author":"Pfeiffer, R.A.; Slavaykoff, H.","year":"1975","unstructured":"Pfeiffer RA, Slavaykoff H. Gibt es ein syndrome nach Ullrich und Feichtiger? Klin Paediatr 1975;187:176-80.","journal-title":"Klin Paediatr"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1016\/S0022-3476(64)80264-X","article-title":"A newly recognized syndrome of multiple congenital anomalies","volume":"64","author":"Smith, D.W.; Lemli, L.; Opitz, J.M.","year":"1964","unstructured":"Smith DW, Lemli L, Opitz JM. A newly recognized syndrome of multiple congenital anomalies. J Pediatr 1964;64:210-7.","journal-title":"J Pediatr"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1111\/j.1399-0004.1984.tb02006.x","article-title":"Smith Lemli Opitz syndrome in two 46, XY infants with female external genitalia","volume":"25","author":"Greene, C.; Pitts, W.; Rosenfeld, R.; Luzzatti, L.","year":"1984","unstructured":"Greene C, Pitts W, Rosenfeld R, Luzzatti L. Smith Lemli Opitz syndrome in two 46,XY infants with female external genitalia. Clin Genet 1984;25:366-72.","journal-title":"Clin Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1111\/j.1651-2227.1983.tb09683.x","article-title":"Case report: intestinal aganglionosis in the Smith Lemli Opitz syndrome","volume":"72","author":"Zizka, J.; Maresova, J.; Kerekes, Z.; Nozicka, Z.; Juttnerova, V.; Balicek, P.","year":"1983","unstructured":"Zizka J, Maresova J, Kerekes Z, Nozicka Z, Juttnerova V, Balicek P. Case report: intestinal aganglionosis in the Smith Lemli Opitz syndrome. Acta Paediatr Scand 1983;72:141-3.","journal-title":"Acta Paediatr Scand"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"2000","DOI":"10.1001\/archopht.1981.03930020876013","article-title":"Ocular manifestations of the Smith Lemli Opitz syndrome","volume":"99","author":"Kretzer, F.L.; Hittner, H.M.; Mehta, R.S.","year":"1981","unstructured":"Kretzer FL, Hittner HM, Mehta RS. Ocular manifestations of the Smith Lemli Opitz syndrome. Arch Ophthalmol 1981;99: 2000-6.","journal-title":"Arch Ophthalmol"},{"key":"ref_11","first-page":"423","article-title":"Brief clinical report: familial neonatally lethal syndrome of hypoplastic left heart, absent pulmonary lobation, polydactyly, and talipes, probably Smith Lemli Opitz (RSH) syndrome","volume":"14","author":"Kohler, H.G.","year":"1983","unstructured":"Kohler HG. Brief clinical report: familial neonatally lethal syndrome of hypoplastic left heart, absent pulmonary lobation, polydactyly, and talipes, probably Smith Lemli Opitz (RSH) syndrome. Am J Med 1983;14:423-8.","journal-title":"Am J Med"},{"key":"ref_12","first-page":"413","article-title":"The Smith Lemli Opitz syndrome: a detailed pathological study as a clue to aetiological heterogeneity","volume":"404","author":"Cherstvoy, E.D.; Lazjuk, G.I.; Ostrovskaya, T.I.","year":"1984","unstructured":"Cherstvoy ED, Lazjuk GI, Ostrovskaya TI, et al. The Smith Lemli Opitz syndrome: a detailed pathological study as a clue to aetiological heterogeneity. Virchows Arch (Pathol Anat) 1984; 404:413-25.","journal-title":"Virchows Arch (Pathol Anat)"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1136\/jmg.23.1.64","article-title":"The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs","volume":"23","author":"Donnai, D.; Young, I.D.; Owen, W.G.; Clark, S.A.; Miller, P.F.W.; Knox, W.F.","year":"1986","unstructured":"Donnai D, Young ID, Owen WG, Clark SA, Miller PFW, Knox WF. The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs. J Med Genet 1986;23:64-71.","journal-title":"J Med Genet"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1177\/000992287701600717","article-title":"The Smith Lemli Opitz syndrome: report of a consanguineous Arab infant with bilateral focal renal dysplasia","volume":"16","author":"Akl, K.F.; Khudr, G.S.; Der Kaloustian, V.M.; Najjar, S.S.","year":"1977","unstructured":"Akl KF, Khudr GS, Der Kaloustian VM, Najjar SS. The Smith Lemli Opitz syndrome: report of a consanguineous Arab infant with bilateral focal renal dysplasia. Clin Pediatr 1977;16:665-8.","journal-title":"Clin Pediatr"},{"key":"ref_15","first-page":"843","article-title":"Nanisme de Smith Lemli Opitz: a propos de quatre observations. Revue de la litterature","volume":"24","author":"Cruveiller, J.M.; Sika, S.; Lafourcade, J.","year":"1977","unstructured":"Cruveiller JM, Sika S, Lafourcade J. Nanisme de Smith Lemli Opitz: a propos de quatre observations. Revue de la litterature. Ann Pediatr 1977;24:843-51.","journal-title":"Ann Pediatr"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1136\/jmg.6.2.113","article-title":"Syndrome of retardation with urogenital and skeletal anomalies (Smith Lemli Opitz syndrome): clinical features and mode of inheritance","volume":"6","author":"Dallaire, L.","year":"1969","unstructured":"Dallaire L. Syndrome of retardation with urogenital and skeletal anomalies (Smith Lemli Opitz syndrome): clinical features and mode of inheritance. J Med Genet 1969;6:113-20.","journal-title":"J Med Genet"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/S0022-3476(84)80406-0","article-title":"Smith Lemli Opitz syndrome and Hirschsprung disease","volume":"104","author":"Lipson, A.; Hayes, A.","year":"1984","unstructured":"Lipson A, Hayes A. Smith Lemli Opitz syndrome and Hirschsprung disease. J Pediatr 1984;104:177.","journal-title":"J Pediatr"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1016\/S0022-3476(68)80441-X","volume":"72","year":"1968","unstructured":"Lowry RB, Miller JF, MacLean JR. Micrognathia, polydactyly, and cleft palate. J Pediatr 1968;72:859-61.","journal-title":"J Pediatr"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1016\/S0022-3476(66)80094-X","article-title":"A syndrome characterised by mental retardation, short stature, craniofacial dysplasia, and genital anomalies occurring in siblings","volume":"69","author":"Blair, R.H.; Martin, J.K.","year":"1966","unstructured":"Blair RH, Martin JK. A syndrome characterised by mental retardation, short stature, craniofacial dysplasia, and genital anomalies occurring in siblings. J Pediatr 1966;69:457-9.","journal-title":"J Pediatr"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1016\/S0022-3476(69)80473-7","article-title":"Cataracts in a girl with features of the Smith Lemli Opitz syndrome","volume":"75","author":"Finley, S.C.; Finley, W.H.; Monsky, D.B.","year":"1969","unstructured":"(0 Finley SC, Finley WH, Monsky DB. Cataracts in a girl with features of the Smith Lemli Opitz syndrome. J Pediatr 1969;75: 706-7.","journal-title":"J Pediatr"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1007\/BF00443506","article-title":"Smith Lemli Opitz syndrome: review and report of two affected siblings","volume":"119","author":"Johnson, V.P.","year":"1975","unstructured":"Johnson VP. Smith Lemli Opitz syndrome: review and report of two affected siblings. Z Kinderheilkd 1975;119:221-34.","journal-title":"Z Kinderheilkd"},{"key":"ref_22","first-page":"860","article-title":"Smith Lemli Opitz syndrome associated with Hirschsprung disease, 46XY female karyotype, and total anomalous pulmonary venous drainage","volume":"106","author":"Kim, E.H.; Boutwell, W.C.","year":"1985","unstructured":"Kim EH, Boutwell WC. Smith Lemli Opitz syndrome associated with Hirschsprung disease, 46XY female karyotype, and total anomalous pulmonary venous drainage. J Pediatr 1985;106: 860-1.","journal-title":"J Pediatr"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1002\/ajmg.1320050205","article-title":"Borderline normal intelligence in the Smith Lemli Opitz (RSH) syndrome","volume":"5","author":"Lowry, R.B.; Yong, S.L.","year":"1980","unstructured":"Lowry RB, Yong SL. Borderline normal intelligence in the Smith Lemli Opitz (RSH) syndrome. Am J Med Genet 1980;5: 137-43.","journal-title":"Am J Med Genet"},{"key":"ref_24","first-page":"425","article-title":"Congenital heart disease in an infant with the Smith Lemli Opitz syndrome","volume":"73","author":"Park, S.C.; Needles, C.F.; Dimich, I.; Sussman, L.","year":"1968","unstructured":"Park SC, Needles CF, Dimich I, Sussman L. Congenital heart disease in an infant with the Smith Lemli Opitz syndrome. J Pediatr 1968;73:425-7.","journal-title":"J Pediatr"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1016\/S0022-3476(83)80422-3","article-title":"Hirschsprung disease in a 46, XY phenotypic infant girl with Smith Lemli Opitz syndrome","volume":"103","author":"Patterson, K.; Toomey, K.E.; Chandra, R.S.","year":"1983","unstructured":"Patterson K, Toomey KE, Chandra RS. Hirschsprung disease in a 46,XY phenotypic infant girl with Smith Lemli Opitz syndrome. J Pediatr 1983;103:425-7.","journal-title":"J Pediatr"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1049","DOI":"10.1016\/S0022-3476(65)80091-9","article-title":"A familial syndrome of facial and skeletal anomalies associated with genital abnormality in the male and normal genitals in the female: another cause of male pseudohermaphroditism","volume":"66","author":"Pinsky, L.; DiGeorge, A.M.","year":"1965","unstructured":"Pinsky L, DiGeorge AM. A familial syndrome of facial and skeletal anomalies associated with genital abnormality in the male and normal genitals in the female: another cause of male pseudohermaphroditism. J Pediatr 1965;66:1049-54.","journal-title":"J Pediatr"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1136\/adc.43.231.620","article-title":"Smith Lemli Opitz syndrome: case report","volume":"43","author":"Ruvalcaba, R.H.A.; Reichert, A.; Smith, D.W.","year":"1968","unstructured":"Ruvalcaba RHA, Reichert A, Smith DW. Smith Lemli Opitz syndrome: case report. Arch Dis Child 1968;43:620-3.","journal-title":"Arch Dis Child"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1136\/jmg.23.2.174","article-title":"An additional case of Smith Lemli Opitz syndrome in a 46, XY infant with female external genitalia","volume":"23","author":"Scarbrough, P.R.; Huddleston, K.; Finley, S.C.","year":"1986","unstructured":"' Scarbrough PR, Huddleston K, Finley SC. An additional case of Smith Lemli Opitz syndrome in a 46,XY infant with female external genitalia. J Med Genet 1986;23:174-5.","journal-title":"J Med Genet"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1002\/ajmg.1320140305","article-title":"Editorial comment: variability in the Smith Lemli Opitz syndrome: overlap with the Meckel syndrome","volume":"14","author":"Lowry, R.B.","year":"1983","unstructured":"Lowry RB. Editorial comment: variability in the Smith Lemli Opitz syndrome: overlap with the Meckel syndrome. Am J Med Genet 1983;14:429-33.","journal-title":"Am J Med Genet"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1002\/ajmg.1320190208","article-title":"A \"new\" lethal multiple congenital anomaly syndrome: joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malformations","volume":"19","author":"Rutledge, J.C.; Friedman, J.M.; Harrod, M.J.E.","year":"1984","unstructured":"Rutledge JC, Friedman JM, Harrod MJE, et al. A \"new\" lethal multiple congenital anomaly syndrome: joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malformations. Am J Med Genet 1984;19:255-64.","journal-title":"Am J Med Genet"},{"issue":"5","key":"ref_31","first-page":"161","article-title":"The C-syndrome of multiple congenital anomalies","volume":"1969","author":"Opitz, J.M.; Johnson, R.C.; McCreadie, SR","unstructured":"Opitz JM, Johnson RC, McCreadie SR. The C-syndrome of multiple congenital anomalies. Birth Defects 1969;5:161-6.","journal-title":"Birth Defects"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1002\/ajmg.1320070110","article-title":"Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and post-axial polydactyly-a new syndrome?","volume":"7","author":"Hall, J.G.; Pallister, P.D.; Clarren, S.K.","year":"1980","unstructured":"Hall JG, Pallister PD, Clarren SK, et al. Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and post-axial polydactyly-a new syndrome? Am J Med Genet 1980;7:47-74.","journal-title":"Am J Med Genet"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1111\/j.1399-0004.1981.tb00718.x","article-title":"The hydrolethalus syndrome: delineation of a 'new' lethal malformation syndrome based on 28 patients","volume":"19","author":"Salomen, R.; Herva, R.; Reijo, M.","year":"1981","unstructured":"Salomen R, Herva R, Reijo M. The hydrolethalus syndrome: delineation of a 'new' lethal malformation syndrome based on 28 patients. Clin Genet 1981;19:321-30.","journal-title":"Clin Genet"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1111\/j.1399-0004.1975.tb00345.x","article-title":"The pathological anatomy of the Smith Lemli Opitz syndrome","volume":"7","author":"Cherstvoy, E.D.; Lazjuk, G.I.; Lurie, L.W.; Nedzved, M.K.; Usoev, S.S.","year":"1975","unstructured":"Cherstvoy ED, Lazjuk GI, Lurie LW, Nedzved MK, Usoev SS. The pathological anatomy of the Smith Lemli Opitz syndrome. Clin Genet 1975;7:382-7.","journal-title":"Clin Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.25.2.88","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:18:21Z","timestamp":1760771901000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.25.2.88"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1988,2]]},"references-count":34,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1988,2,1]]},"published-print":{"date-parts":[[1988,2]]}},"alternative-id":["10.1136\/jmg.25.2.88"],"URL":"https:\/\/doi.org\/10.1136\/jmg.25.2.88","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1988,2]]}}}