{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T00:36:43Z","timestamp":1760747803815,"version":"build-2065373602"},"reference-count":18,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1994,5]]},"abstract":"<jats:p>Three unrelated Puerto Rican boys, ranging in age from 3 to 4 years, had marked, central, non-progressive hypotonia, chronic constipation, severe psychomotor retardation, seizures or abnormal electroencephalograph or both, abnormal dermatoglyphics, delayed bone age, dysharmonic skeletal maturation, and preponderance and larger size of type 2 muscle fibres. Additional findings included narrow, high arched palate, prominent nasal root, long philtrum, distended abdomen, and drooling from open mouth. Two of the three patients also had undescended testes, hypertelorism, and tapered fingers. Birth weight, postnatal physical growth, and head size were average. Family and gestational histories and laboratory evaluations were normal. The combination of features observed in the three boys appears to be distinct and to represent a new syndrome.<\/jats:p>","DOI":"10.1136\/jmg.31.5.405","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"405-409","source":"Crossref","is-referenced-by-count":6,"title":["A syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion."],"prefix":"10.1136","volume":"31","author":[{"given":"Q H","family":"Qazi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Markouizos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Rao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Sheikh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Beller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Kula","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1994,5,1]]},"reference":[{"key":"ref_1","article-title":"The floppy infant. Clinics in developmental medicine. No 76","author":"Dubowitz, V.","year":"1980","unstructured":"Dubowitz V. The floppy infant. Clinics in developmental medicine. No 76. 2nd ed. Philadelphia, J B Lippincott, 1980.","edition":"2nd ed","journal-title":"Philadelphia, J B Lippincott"},{"key":"ref_2","first-page":"28","article-title":"Muscle biopsy: a practical approach","author":"Dubowitz, V.; Sewry, C.A.; Fitzsimons, R.B.","year":"1985","unstructured":"Dubowitz V, Sewry CA, Fitzsimons RB. Muscle biopsy: a practical approach. 2nd ed. Philadelphia: Bailliere Tindall, 1985:28-40,56-67.","edition":"2nd ed"},{"key":"ref_3","first-page":"41732","article-title":"Dysharmonic maturation of the hand in congenital malformation syndromes","volume":"35","author":"Poznansky, A.K.; Garn, S.M.; Kuhns, L.R.; Sandusky, S.T.","year":"1971","unstructured":"Poznansky AK, Garn SM, Kuhns LR, Sandusky ST. Dysharmonic maturation of the hand in congenital malformation syndromes. AmJ7 Phys Anthropol 1971;35:41732.","journal-title":"AmJ7 Phys Anthropol"},{"key":"ref_4","first-page":"67","article-title":"The hand in radiologic diagnosis with gamuts and pattern profiles","author":"Poznansky, A.K.","year":"1984","unstructured":"Poznansky AK. The hand in radiologic diagnosis with gamuts and pattern profiles. Philadelphia: Saunders, 1984:67-96."},{"key":"ref_5","first-page":"147","article-title":"Congenital fiber type disproportion","volume-title":"Clinical studies in myology. Amsterdam: Excerpta Medica, International Congress Series No 295","volume":"1973","author":"Brooke, M.H.","unstructured":"Brooke MH. Congenital fiber type disproportion. In: Kakulas BA, ed. Clinical studies in myology. Amsterdam: Excerpta Medica, International Congress Series No 295, 1973:147-59."},{"key":"ref_6","first-page":"1532","article-title":"Congenital fiber type disproportion","volume":"2","author":"Banker, B.Q.","year":"1986","unstructured":"Banker BQ. Congenital fiber type disproportion. In: Engel AG, Banker BQ, eds. Myology. Vol 2. New York: McGraw-Hill, 1986:1532-3."},{"issue":"171","key":"ref_7","first-page":"12","article-title":"An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder","volume":"1962","unstructured":"Borjeson M, Forssman H, Lehmann 0. An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder. Acta Med Scand 1962;171:12-21.","journal-title":"Acta Med Scand"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1002\/ajmg.1320190405","article-title":"Borjeson-Forssman-Lehmann syndrome. Further delineation in five cases","volume":"19","author":"Ardinger, H.H.; Hanson, J.W.; Zellweger, H.U.","year":"1984","unstructured":"Ardinger HH, Hanson JW, Zellweger HU. Borjeson-Forssman-Lehmann syndrome. Further delineation in five cases. Am J Med Genet 1984; 19:653-64.","journal-title":"Am J Med Genet"},{"issue":"17","key":"ref_9","first-page":"1","article-title":"The FG syndrome: an X-linked recessive syndrome of multiple congenital anomalies and mental retardation","volume-title":"Z Kinderheilkd","volume":"1","author":"Opitz, J.M.; Kaveggia, E.G.","year":"1974","unstructured":"Opitz JM, Kaveggia EG. The FG syndrome: an X-linked recessive syndrome of multiple congenital anomalies and mental retardation. Z Kinderheilkd 1974;1 17:1-18."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1002\/ajmg.1320120205","article-title":"Studies of malformation syndromes of humans XXXIIIC. The FG syndrome - further studies on three affected individuals from the FG family","volume":"12","author":"Opitz, J.M.; Kaveggia, E.G.; WN, Jr, Adkins","year":"1982","unstructured":"Opitz JM, Kaveggia EG, Adkins WN Jr, et al. Studies of malformation syndromes of humans XXXIIIC. The FG syndrome - further studies on three affected individuals from the FG family. AmJ Med Genet 1982;12:147-54.","journal-title":"AmJ Med Genet"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1002\/ajmg.1320160409","article-title":"The cerebrohepatorenal syndrome of Zellweger. Morphologic and metabolic aspects","volume":"16","author":"Kelley, R.I.","year":"1983","unstructured":"Kelley RI. The cerebrohepatorenal syndrome of Zellweger. Morphologic and metabolic aspects. Am J Med Genet 1983;16:503-17.","journal-title":"Am J Med Genet"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1002\/ajmg.1320240109","article-title":"Zellweger syndrome: diagnostic assays, syndrome delineation, and potential therapy","volume":"24","author":"Wilson, G.N.; Holmer, R.G.; Custer, J.","year":"1986","unstructured":"Wilson GN, Holmer RG, Custer J, et al. Zellweger syndrome: diagnostic assays, syndrome delineation, and potential therapy. Am J Med Genet 1986;24:69-82.","journal-title":"Am J Med Genet"},{"key":"ref_13","first-page":"1260","article-title":"Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach Myatonieartigem Zustand im Neugeborenealter","volume":"86","author":"Prader, A.; Labhart, A.; Willi, H.","year":"1956","unstructured":"Prader A, Labhart A, Willi H. Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach Myatonieartigem Zustand im Neugeborenealter. Schweiz Med Wochenschr 1956;86:1260-1.","journal-title":"Schweiz Med Wochenschr"},{"key":"ref_14","first-page":"286","article-title":"Prader-Willi syndrome a resume of 32 cases including an instance of affected first cousins, one of whom is of normal stature and intelligence","volume":"81","author":"Hall, B.D.; Smith, D.W.","year":"1972","unstructured":"Hall BD, Smith DW. Prader-Willi syndrome a resume of 32 cases including an instance of affected first cousins, one of whom is of normal stature and intelligence. J Pediatr 1972;81:286-93.","journal-title":"J Pediatr"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1136\/jmg.25.5.344","article-title":"The Coffin-Lowry syndrome","volume":"25","author":"Young, I.D.","year":"1988","unstructured":"Young ID. The Coffin-Lowry syndrome. J Med Genet 1988;25:344-8.","journal-title":"J Med Genet"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1111\/j.1399-0004.1984.tb01087.x","article-title":"Early clinical signs in Coffin-Lowry syndrome","volume":"26","author":"Vles, J.S.H.; Haspeslagh, M.; Raes, M.M.R.; Fryns, J.P.; Casaer, P.; Eggermont, E.","year":"1984","unstructured":"Vles JSH, Haspeslagh M, Raes MMR, Fryns JP, Casaer P, Eggermont E. Early clinical signs in Coffin-Lowry syndrome. Clin Genet 1984;26:448-52.","journal-title":"Clin Genet"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1056\/NEJM198109103051103","article-title":"disease and mental retardation: a new syndrome or a remarkable coincidence?","volume":"305","author":"Weatherall, D.J.; Higgs, D.R.; Bunch, C.","year":"1981","unstructured":"Weatherall DJ, Higgs DR, Bunch C, et al. Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence? N Englj Med 1981;305:607-12.","journal-title":"N Englj Med"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1136\/jmg.28.11.729","article-title":"A newly defined X linked mental retardation syndrome associated with alpha-thalassaemia","volume":"28","year":"1991","unstructured":"Gibbons RJ, Wilkie AOM, Weatherall DJ, Higgs DR. A newly defined X linked mental retardation syndrome associated with alpha-thalassaemia. J Med Genet 1991;28:729-33.","journal-title":"J Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.31.5.405","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:39:33Z","timestamp":1760733573000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.31.5.405"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,5]]},"references-count":18,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1994,5,1]]},"published-print":{"date-parts":[[1994,5]]}},"alternative-id":["10.1136\/jmg.31.5.405"],"URL":"https:\/\/doi.org\/10.1136\/jmg.31.5.405","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1994,5]]}}}