TY - JOUR
T1 - Autosomal Recessive Inheritance in the Setleis Bitemporal ‘Forceps Marks’ Syndrome
AU - Marion, Robert W.
AU - Chitayat, David
AU - Hutcheon, R. Gordon
AU - Goldberg, Rosalie
AU - Shprintzen, Robert J.
AU - Cohen, M. Michael
PY - 1987/8
Y1 - 1987/8
N2 - We present the clinical findings in two children with the Setleis bitemporal “forceps marks” syndrome. The striking features include the following: (1) bitemporal scarring, an anomaly that resembles forceps marks; (2) periorbital puffiness with wrinkling of the skin; (3) abnormalities of the eyebrows; (4) anomalles of the eyelashes; (5) flattening of the nasal bridge with a bulbous nasal tip; (6) increased mobility of the skin, associated with severely redundant facial soft tissue; and (7) normal growth and development. The evidence that suggests that this unusual syndrome is inherited in an autosomal recessive fashion includes the following: (1) seven of the patients have come from the relatively isolated towns of San Sebastian and Aguadilla in Puerto Rico; (2) two sets of affected siblings have been described, and, in both cases, the siblings' Parents were normal; and (3) one of the children described herein is the product of a consanguineous mating. Although the pathogenetic mechanism Is unknown, Setleis syndrome is clearly inherited as an autosomal recessive trait.
AB - We present the clinical findings in two children with the Setleis bitemporal “forceps marks” syndrome. The striking features include the following: (1) bitemporal scarring, an anomaly that resembles forceps marks; (2) periorbital puffiness with wrinkling of the skin; (3) abnormalities of the eyebrows; (4) anomalles of the eyelashes; (5) flattening of the nasal bridge with a bulbous nasal tip; (6) increased mobility of the skin, associated with severely redundant facial soft tissue; and (7) normal growth and development. The evidence that suggests that this unusual syndrome is inherited in an autosomal recessive fashion includes the following: (1) seven of the patients have come from the relatively isolated towns of San Sebastian and Aguadilla in Puerto Rico; (2) two sets of affected siblings have been described, and, in both cases, the siblings' Parents were normal; and (3) one of the children described herein is the product of a consanguineous mating. Although the pathogenetic mechanism Is unknown, Setleis syndrome is clearly inherited as an autosomal recessive trait.
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U2 - 10.1001/archpedi.1987.04460080081033
DO - 10.1001/archpedi.1987.04460080081033
M3 - Article
C2 - 3631024
AN - SCOPUS:0023260088
SN - 0002-922X
VL - 141
SP - 895
EP - 897
JO - American Journal of Diseases of Children
JF - American Journal of Diseases of Children
IS - 8
ER -