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Familial tricho‐rhino‐phalangeal syndrome Type II
Author(s) -
Murachi S.,
Nogami H.,
Oki T.,
Ogino T.
Publication year - 1981
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.1399-0004.1981.tb00688.x
Subject(s) - daughter , genetics , offspring , genetic disorder , medicine , biology , pediatrics , pregnancy , evolutionary biology , gene
Two cases, a father and daughter, with all the principal signs of tricho‐rhino‐phalangeal syndrome Type II are described, although nine previously reported cases were all sporadic. It is suggested that these two patients have a genetic disorder with an autosomal dominant mode of inheritance. It may be reasonable to assume that a patient with relatively mild mental retardation, such as the father in the present report, could marry and have offspring. Generalized aminoaciduria was found in the affected daughter.