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Macrosomia, microphthalmia, ± cleft palate and early infant death: a new autosomal recessive syndrome
Author(s) -
Tebi Ahmad S.,
AlSaleh Qusay A.,
Hassoon Mohammed M.,
Farag Talaat I.,
AlAwadi Sadika A.
Publication year - 1989
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1989.tb03184.x
Subject(s) - microphthalmia , autosomal recessive inheritance , consanguinity , medicine , pediatrics , biology , genetics , gene
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.