-transparent.png){kind=logo}
We have studied a three-generation family with 11 moderately to severely retarded males and three mildly retarded females (presumably manifesting carriers). The patients have a phenotype different from that of all other previously described types of X-linked MR (XLMR). These include short stature, macrocephaly, "coarse" facial appearance including prominent forehead and supraorbital ridges, hypertelorism, broad nasal tip with anteverted nostrils, and thick lips. All postpubertal males had macroorchidism (volume greater than 25 ml). Chromosomes were normal including fragile X analysis. X-ray findings of skull, spine, and hands were normal. The intellectually normal relatives do not resemble their affected relatives except for increased head size and testicular size. These findings suggest a new variant of XLMR different from fragile X-linked MR, the Coffin-Lowry syndrome, and other XLMR conditions.
J F Atkin, and
K Flaitz, and
S Patil, and
W Smith
January 1987,
American journal of medical genetics,
J F Atkin, and
K Flaitz, and
S Patil, and
W Smith
October 1995,
Clinical dysmorphology,
J F Atkin, and
K Flaitz, and
S Patil, and
W Smith
April 2012,
Anales de pediatria (Barcelona, Spain : 2003),
J F Atkin, and
K Flaitz, and
S Patil, and
W Smith
January 1984,
American journal of medical genetics,
J F Atkin, and
K Flaitz, and
S Patil, and
W Smith
January 1984,
American journal of medical genetics,
J F Atkin, and
K Flaitz, and
S Patil, and
W Smith
January 1988,
American journal of medical genetics,
J F Atkin, and
K Flaitz, and
S Patil, and
W Smith
January 2001,
Ryoikibetsu shokogun shirizu,
J F Atkin, and
K Flaitz, and
S Patil, and
W Smith
August 1970,
Lancet (London, England),
J F Atkin, and
K Flaitz, and
S Patil, and
W Smith
October 1992,
Journal of medical genetics,
J F Atkin, and
K Flaitz, and
S Patil, and
W Smith
November 1987,
Clinical genetics,
