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Hereditary motor and sensory neuropathy type I, associated with aplasia cutis congenital possible X‐linked inheritance
Author(s) -
Castle David,
Isaacs Hyam,
Ramsay Michale,
Bernstein Renee
Publication year - 1992
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.1399-0004.1992.tb03644.x
Subject(s) - aplasia cutis congenita , aplasia , medicine , hereditary motor and sensory neuropathy , autosomal recessive inheritance , dermatology , ectodermal dysplasia , family history , anatomy , disease , genetics , pathology , biology , scalp , surgery , gene
Castle D, Isaacs H, Ramsay M, Bernstein R. Hereditary motor and sensory neuropathy type I, associated with aplasia cutis congenita: possible X‐linked inheritance. Clin Genet 1992:41: 108–110. We report a family with possible X‐linked recessive HMSN I with minor signs of the disease and abnormal sensory conduction studies evident in female carriers. There is a previously undescribed association with aplasia cutis congenita in both affected males, and a history of a severe skull defect in a third male child, who died at birth. The latter defect usually shows an autosomal dominant pattern of inheritance.