Menkes Kinky Hair Syndrome in a Black Infant

The Female Brindled Mouse as a Model of Menkes' Disease: The Relationship of Fur Pattern to Behavioral and Neurochemical Abnormalities

“…Some human females, however, do show clinical symptoms similar to those of the female brindled mice, including abnormal hair structure [31] and abnor mal skin pigmentation [32], In addition, the sister of 1 male patient, who had Menkes' disease, also exhibited abnormal hair and abnormal deep tendon reflexes, as well as generalized clonic seizures [33], dying at the age of 14 months. Given the similarity between these clinical symptoms, and those of the female brindled mouse, more extensive neurological examination of human car riers should be undertaken.…”

Distribution of Ingested and Injected Radiocopper in Two Patients with Menkes' Kinky Hair Disease

“…1); his clinical presentation has been reported previously (27). He was born 3 wk early after premature rupture of membranes, his birth weight was 3.3 kg, his Apgar was 10.…”

Categories of Cutaneous Mosaicism

“…Heterozygous women tend to be rather mildly affected, and Minor's sweat testing shows rather often a Blaschko-linear pattern of anhidrotic areas (Figure 5) [47]. Other traits within this group include Menkes syndrome [48], X-linked dyskeratosis congenita [49], IFAP (ichthyosis follicularis, atrichia, photophobia) syndrome [50], reticulate pigmentary disorder of Partington [51] and X-linked dominant hypertrichosis [52].…”