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Association of Severe Microcephaly, Short Palpebral Fissures, Micrognathia, Growth Retardation and Early Death: A New Syndrome
Author(s) -
Madokoro Harumichi,
Ohdo Shozo,
Sonoda Tohru,
Ohba Kenichi,
Hayakawa Kunio
Publication year - 1987
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1987.tb00029.x
Subject(s) - proband , medicine , microcephaly , palpebral fissure , hypertelorism , pediatrics , consanguineous marriage , anatomy , consanguinity , genetics , gene , mutation , biology
Four siblings presenting a combination of severe microcephaly, short and laterally downward slanting palpebral fissures, hypertelorism, micrognathia, and growth retardation are reported. The proband had congenital heart disease complicating these characteristic symptoms. The parents were not consanguineous. The karyotypes of the proband and parents were normal. The faces of three brothers of the proband were very much like that of the proband, but tvjo of them had cleft palates. Although it was confirmed that one of the three brothers did not have congenital heart disease, its presence in the other two could not be ascertained. All three older brothers died within one month after birth.