TY - JOUR
T1 - Simpson-Golabi-Behmel syndrome
T2 - An X-linked encephalo-tropho-schisis syndrome
AU - Neri, G.
AU - Marini, R.
AU - Cappa, M.
AU - Borrelli, P.
AU - Opitz, J. M.
PY - 1988
Y1 - 1988
N2 - We report on another family with the so-called 'gigantism-dysplasia syndrome', an X-linked condition characterized by pre- and postnatal overgrowth, characteristic face with apparent coarseness, dysplastic changes in several tissues, and mild intellectual impairment. This condition has been called the Golabi-Rosen syndrome; however, we agree that is the same entity as that described, in a milder form, by Simpson et al in 1975 and by Behmel et al in 1984. Therefore, we suggest that this entity be designated the Simpson-Golabi-Behmel syndrome. The manifestations in affected individuals suggest that this condition represents an X-linked encephalo-tropho-schisis syndrome.
AB - We report on another family with the so-called 'gigantism-dysplasia syndrome', an X-linked condition characterized by pre- and postnatal overgrowth, characteristic face with apparent coarseness, dysplastic changes in several tissues, and mild intellectual impairment. This condition has been called the Golabi-Rosen syndrome; however, we agree that is the same entity as that described, in a milder form, by Simpson et al in 1975 and by Behmel et al in 1984. Therefore, we suggest that this entity be designated the Simpson-Golabi-Behmel syndrome. The manifestations in affected individuals suggest that this condition represents an X-linked encephalo-tropho-schisis syndrome.
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M3 - Article
C2 - 3177455
AN - SCOPUS:0023682883
SN - 1552-4825
VL - 30
SP - 287
EP - 299
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 1-2
ER -