{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T15:23:50Z","timestamp":1789053830221,"version":"build-2803163510"},"reference-count":12,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1997,10]]},"abstract":"<jats:p>We report two sisters with macrocephaly, epilepsy, and severe mental retardation. The first child was a 14 year old girl born at term after a normal pregnancy, with birth weight 3600 g and occipitofrontal circumference (OFC) 36 cm (75th centile). Her head size increased markedly during the first six months of life, and was later stable at 2-3 cm above the 97.5th centile. Her development was characterised by psychomotor delay, epilepsy, and autistic features. Her face appeared mildly dysmorphic with a large forehead, short philtrum, and bushy eyebrows. Her younger sister was also born at term with birth weight 2600 g and OFC 34 cm (25th centile). She also developed postnatal macrocephaly with OFC 2 cm above the 97.5th centile and the same mild dysmorphic facial features as her sister. Her development was also characterised by psychomotor delay, autistic features, and epilepsy. In addition, she suffered from coeliac disease. She died unexpectedly at the age of 5 years, probably from an epileptic attack. Necropsy confirmed megalencephaly but no other pathological changes were found. The clinical features in these two sisters do not fit with any known syndrome and may represent a previously unrecognised autosomal recessive disorder.<\/jats:p>","DOI":"10.1136\/jmg.34.10.849","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"849-851","source":"Crossref","is-referenced-by-count":15,"title":["Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome?"],"prefix":"10.1136","volume":"34","author":[{"given":"K H","family":"Orstavik","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Str\u00f8mme","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Ek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Torvik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O H","family":"Skjeldal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1997,10,1]]},"reference":[{"key":"ref_1","article-title":"London Dysmorphology Database","author":"Winter, R.M.; Baraitser, M.","year":"1993","unstructured":"Winter RM, Baraitser M. London Dysmorphology Database. Oxford: Oxford University Press, 1993."},{"key":"ref_2","first-page":"461","article-title":"Diagnostic criteria in coeliac disease","volume":"59","author":"Meeuwisse, G.W.","year":"1970","unstructured":"Meeuwisse GW. Diagnostic criteria in coeliac disease. Acta Paediatr Scand 1970;59:461-3.","journal-title":"Acta Paediatr Scand"},{"issue":"9","key":"ref_3","first-page":"55","article-title":"Body length and organ weights of infants and children","volume":"1933","author":"Coppoletta, J.M.; Wolbach, S.B.","unstructured":"Coppoletta JM, Wolbach SB. Body length and organ weights of infants and children. Am J Pathol 1933;9:55-70.","journal-title":"Am J Pathol"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1286","DOI":"10.1136\/adc.67.10.1286","article-title":"Centiles for adult head circumference","volume":"67","author":"Bushby, K.M.D.; Cole, T.; Matthews, J.N.S.; Goodship, J.A.","year":"1992","unstructured":"Bushby KMD, Cole T, Matthews JNS, Goodship JA. Centiles for adult head circumference. Arch Dis Child 1992;67: 1286-8.","journal-title":"Arch Dis Child"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1002\/ana.410260203","article-title":"A prospective study of unexpected death in epilepsy","volume":"26","author":"Leestma, J.E.; Walczak, T.; Hughes, J.; Kalelkar, M.B.; Teas, S.","year":"1989","unstructured":"Leestma JE, Walczak T, Hughes J, Kalelkar MB, Teas S. A prospective study of unexpected death in epilepsy. 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Lancet 1994;ii: 1585-6.","journal-title":"Lancet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1111\/j.1399-0004.1988.tb03451.x","article-title":"Mental retardation, macrocephaly, short stature and craniofacial dysmorphism in three sisters","volume":"33","author":"Fryns, J.P.; Dereymaeker, A.M.; Haegeman, J.; van den Berghe, H.","year":"1988","unstructured":"Fryns JP, Dereymaeker AM, Haegeman J, van den Berghe H. Mental retardation, macrocephaly, short stature and craniofacial dysmorphism in three sisters. Clin Genet 1988; 33:293-8.","journal-title":"Clin Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1002\/ajmg.1320410128","article-title":"Autosomal dominant macrocephaly: benign familial macrocephaly or a new syndrome?","volume":"41","author":"Cole, T.R.P.; Hughes, H.E.","year":"1991","unstructured":"Cole TRP, Hughes HE. Autosomal dominant macrocephaly: benign familial macrocephaly or a new syndrome? Am J Med Genet 1991;41: 115-24.","journal-title":"Am J Med Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1136\/jmg.31.1.20","article-title":"Sotos syndrome: a study of the diagnostic criteria and natural history","volume":"31","author":"Cole, T.R.P.; Hughes, H.E.","year":"1994","unstructured":"Cole TRP, Hughes HE. Sotos syndrome: a study of the diagnostic criteria and natural history. J Med Genet 1994;31:20-32.","journal-title":"J Med Genet"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1111\/j.1399-0004.1989.tb03375.x","article-title":"An apparently new autosomal recessive syndrome with facial dysmorphism, macrocephaly, myopia and Dandy-Walker malformation","volume":"36","author":"Buttiens, M.; Fryns, H.P.; van den Berghe, H.","year":"1989","unstructured":"Buttiens M, Fryns HP, van den Berghe H. An apparently new autosomal recessive syndrome with facial dysmorphism, macrocephaly, myopia and Dandy-Walker malformation. Clin Genet 1989;36:451-5.","journal-title":"Clin Genet"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1111\/j.1399-0004.1994.tb04146.x","article-title":"distinct craniofacial appearance and spastic paraplegia: an autosomal recessive subtype of complicated spastic paraplegia","volume":"45","author":"Fryns, J.P.; Hellemans, M.; van den Berghe H. Macrocephaly","year":"1994","unstructured":"Fryns JP, Hellemans M, van den Berghe H. Macrocephaly, distinct craniofacial appearance and spastic paraplegia: an autosomal recessive subtype of complicated spastic paraplegia. 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