{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:10:02Z","timestamp":1760764202207,"version":"build-2065373602"},"reference-count":5,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1982,10]]},"abstract":"<jats:p>A single case of the hypertelorism microtia clefting (HMC) syndrome, a rare autosomal recessive condition, is reported.<\/jats:p>","DOI":"10.1136\/jmg.19.5.387","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"387-388","source":"Crossref","is-referenced-by-count":8,"title":["The hypertelorism microtia clefting syndrome"],"prefix":"10.1136","volume":"19","author":[{"given":"M","family":"Baraitser","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1982,10,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1001\/archpedi.1969.02100040497015","article-title":"and facial clefting. A newly described inherited syndrome","volume":"118","author":"Bixler, D.; Christian, J.C.; Hypertelorism, Gorlin R.J.; microtia","year":"1969","unstructured":"Bixler D, Christian JC, Gorlin RJ. Hypertelorism, microtia, and facial clefting. A newly described inherited syndrome. Am J Dis Child 1969;118:495-8.","journal-title":"Am J Dis Child"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1007\/BF00286858","article-title":"HMC syndrome in identical twins","volume":"33","author":"Schweckendiek, W.; Hillig, U.; Kruse, E.; Rodeck, G.; Wendt, G.G.","year":"1976","unstructured":"Schweckendiek W, Hillig U, Kruse E, Rodeck G, Wendt GG. HMC syndrome in identical twins. Hum Genet 1976;33:315-8.","journal-title":"Hum Genet"},{"key":"ref_3","unstructured":"This observation fits into a nosological group the first example of which seems to have been recognised by Moynahan in 1962.1 Its main feature, general alopecia (atrichosis), mainly congenital, is associated with various non-progressive neurological and sensory disorders. Several relevant cases reported so far show intrafamilial similarity but interfamilial variation and suggest heterogeneity. Therefore, the summary in the table of observations published by Richieri-Costa and Frota-Pessoa2 may be far from being final.","article-title":"This observation fits into a nosological group the first example of which seems to have been recognised by Moynahan in 1962.1 Its main feature, general alopecia (atrichosis), mainly congenital, is associated with various non-progressive neurological and sensory disorders. Several relevant cases reported so far show intrafamilial similarity but interfamilial variation and suggest heterogeneity. Therefore, the summary in the table of observations published by Richieri-Costa and Frota-Pessoa2 may be far from being final"},{"key":"ref_4","unstructured":"The patients, a brother and sister, were born in 1964 and 1965 to normal unrelated parents. A younger brother was unaffected. Birthweight was 2550 g and 2900 g, respectively, and length was 48 cm. Motor and particularly mental and speech development have been severely retarded. Heights at the ages of 7 and 6 and again at 15 and 14 years were on the 3rd centile, and head circumferences (46 cm) were below the 2.5th centile. Bone age was within the normal range and puberty was delayed. At the age of 16, the girl was still premenarchal. Single scalp hairs were present at birth in the male but soon fell out, as in the female who was born with 'normal looking' hair. Scalp and body hair never reappeared. Eyebrows and lashes were extremely scanty, and there was virtually no pubic or axillary hair (figure).","article-title":"The patients, a brother and sister, were born in 1964 and 1965 to normal unrelated parents. A younger brother was unaffected. Birthweight was 2550 g and 2900 g, respectively, and length was 48 cm. Motor and particularly mental and speech development have been severely retarded. Heights at the ages of 7 and 6 and again at 15 and 14 years were on the 3rd centile, and head circumferences (46 cm) were below the 2.5th centile. Bone age was within the normal range and puberty was delayed. At the age of 16, the girl was still premenarchal. Single scalp hairs were present at birth in the male but soon fell out, as in the female who was born with 'normal looking' hair. Scalp and body hair never reappeared. Eyebrows and lashes were extremely scanty, and there was virtually no pubic or axillary hair (figure)"},{"article-title":"SUMMARY A brother and sister are reported who had congenital universal atrichosis, microcephaly, and mental retardation. Similar observations representing a rare nosological group are Received for","year":"1982","key":"ref_5","unstructured":"SUMMARY A brother and sister are reported who had congenital universal atrichosis, microcephaly, and mental retardation. Similar observations representing a rare nosological group are Received for publication 22 February 1982"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.19.5.387","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:47:46Z","timestamp":1760762866000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.19.5.387"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1982,10]]},"references-count":5,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1982,10,1]]},"published-print":{"date-parts":[[1982,10]]}},"alternative-id":["10.1136\/jmg.19.5.387"],"URL":"https:\/\/doi.org\/10.1136\/jmg.19.5.387","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1982,10]]}}}