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Peculiar face, deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation; a new autosomal recessive syndrome?
Author(s) -
Ieshima Atsushi,
Koeda Tatsuya,
Inagaki Masumi
Publication year - 1986
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.1399-0004.1986.tb00583.x
Subject(s) - male pseudohermaphroditism , psychomotor retardation , psychomotor learning , medicine , growth retardation , autosomal recessive inheritance , genetics , pediatrics , biology , endocrinology , pregnancy , psychiatry , pathology , cognition , alternative medicine , gene
Two siblings with peculiar facies, deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation were reported. The similarity of both the dysmorphic features and the clinical course suggests a new syndrome, which inheritance is considered to be autosomal recessive.