title: Macrosomia, microphthalmia, +/- cleft palate and early infant death: a new autosomal recessive syndrome.
abstract: An Arab girl with macrosomia, severe microphthalmia and early infant death is reported. Four other sibs were similarly affected; three of them had median cleft palate. All five sibs showed respiratory infections in early life and died either unexpectedly or because of a documented overwhelming infection. Parental consanguinity and affected sibs of both sexes strongly suggest autosomal recessive inheritance in this apparently new syndrome.
authors: Kuwait Medical Genetics Centre, Maternity Hospital.
authors: A S
authors: AS
authors: Teebi
authors: Q A
authors: QA
authors: al-Saleh
authors: M M
authors: MM
authors: Hassoon
authors: T I
authors: TI
authors: Farag
authors: S A
authors: SA
authors: al-Awadi
mesh_terms: D002972:Cleft Palate / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D005320:Fetal Macrosomia / Q000235:genetics*; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008423:Maternal Age; D008850:Microphthalmos / Q000235:genetics*; D010375:Pedigree; D018566:Pregnancy, High-Risk; D013398:Sudden Infant Death; D013577:Syndrome