{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T23:49:09Z","timestamp":1788306549480,"version":"build-2803163510"},"reference-count":21,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,5,16]],"date-time":"2005-05-16T00:00:00Z","timestamp":1116201600000},"content-version":"vor","delay-in-days":3465,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,11,20]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Simpson\u2010Golabi Behmel syndrome (SGBS) is an X\u2010linked disorder characterized by pre\u2010 and postnatal macrosomia, minor facial anomalies, and variable visceral, skeletal, and neurological abnormalities. Since its first description by Simpson et al. [1975: BD:OA XI(2):18\u201324], a wide clinical range of cases has been reported. There is great variability in severity, ranging from a mild form associated with long\u2010term survival to an early lethal form with multiple congenital anomalies and severe mental retardation. In 8 reported families, affected individuals died in infancy.<\/jats:p><jats:p>Here we present 4 maternally related, male cousins with a severe variant of SGBS. One of these males was aborted therapeutically at 19 weeks of gestation following the detection of multicystic kidneys on ultrasound. The 3 liveborn males were hydropic at birth with a combination of craniofacial anomalies including macrocephaly; apparently low\u2010set, posteriorly angulated ears; hypertelorism; short, broad nose with anteverted nares; large mouth with thin upper vermilion border; prominent philtrum; high\u2010arched or cleft palate; short neck; redundant skin; hypoplastic nails; skeletal defects involving upper and lower limbs; gastrointestinal and genitourinary anomalies. All 3 patients were hypotonic and neurologically impaired from birth. With the exception of a trilobate left lung in one patient, the cardiorespiratory system was structurally normal. All patients died within the first 8 weeks of life of multiple complications including pneumonia and sepsis.<\/jats:p><jats:p>Two SGBS kindreds, with moderate expression of the condition, have been mapped to Xq27. It is not known whether severe, familial cases, such as ours, are genetically distinct from and map to another locus. Final resolution of the genetic basis of the phenotypic variability in SGBS must await cloning and mutation analysis of the SGBS gene(s). \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320590310","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:15:22Z","timestamp":1118513722000},"page":"329-333","source":"Crossref","is-referenced-by-count":71,"title":["Infantile lethal variant of Simpson\u2010Golabi\u2010Behmel syndrome associated with hydrops fetalis"],"prefix":"10.1002","volume":"59","author":[{"given":"D.","family":"Terespolsky","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. A.","family":"Farrell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Siegel\u2010Bartelt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Weksberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,5,16]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291401"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300129"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460523"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440202"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170128"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440203"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430165"},{"key":"e_1_2_1_9_1","first-page":"A735","article-title":"Three new families with the Simpson\u2010Golabi\u2010Behmel syndrome","volume":"49","author":"Kaariainen H","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190424"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320380215"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300130"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170129"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300131"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320500423"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320500424"},{"key":"e_1_2_1_17_1","first-page":"13","article-title":"Simpson\u2010Golabi\u2010Behmel syndrome","volume":"11","author":"Schroer R","year":"1992","journal-title":"Proc Greenwood Genet Centre"},{"key":"e_1_2_1_18_1","series-title":"BD:OA","first-page":"18","volume-title":"A previously unrecognized X\u2010linked syndrome of dysmorphia","author":"Simpson JL","year":"1975"},{"key":"e_1_2_1_19_1","unstructured":"TorrielloHV ArgoKM JelsemaRD ZuidemaLJ(1994):Two fetuses with large abdomen short limbs and omphalocele on ultrasound: Prenatal dysmorphology. 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