Say-Meyer syndrome
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(Redirected from Say Meyer syndrome)
| Say-Meyer syndrome | |
|---|---|
| Classification and external resources | |
| OMIM | 314320 |
| DiseasesDB | 33251 |
Say-Meyer syndrome, also called trigonocephaly with short stature and developmental delay,[1] is an autosomal dominant[2] congenital disorder consisting of trigonocephaly, short stature, and motor and mental retardation.[3] Trigonocephaly is a deformity of the skull in which the vault of the skull is sharply angled just in front of the ears, giving the skull a triangular shape. The syndrome is named after Turkish medical geneticist Burhan Say and American physician Julia Meyer.[3]
[edit] References
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 314320
- ^ Hunter AG, Rudd NL, Hoffmann HJ (1976). "Trigonocephaly and associated minor anomalies in mother and son" (Free full text). J. Med. Genet. 13 (1): 77–79. doi:10.1136/jmg.13.1.77. PMC 1013359. PMID 1271432. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1013359.
- ^ a b Say B, Meyer J (1981). "Familial trigonocephaly associated with short stature and developmental delay". Am. J. Dis. Child. 135 (8): 711–712. PMID 6168197.
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