Alopecia/mental retardation syndrome.
We report on an African-American patient with alopecia universalis, microcephaly, hypogonadism, and mental and growth retardation, and compare his phenotype to others with recessive alopecia/mental retardation syndromes in the literature. Our patient represents the first case reported from nonconsanguineous African-American parents.
Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
V L
VL
Hannig
G E
GE
Tiller
D000505:Alopecia / Q000235:genetics*; D044383:Black People; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics; D011247:Pregnancy; D013577:Syndrome; D001741:Black or African American