Abstract
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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 895-897 |
| Number of pages | 3 |
| Journal | American Journal of Diseases of Children |
| Volume | 141 |
| Issue number | 8 |
| DOIs | |
| State | Published - 1987 |
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ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
Cite this
Autosomal Recessive Inheritance in the Setleis Bitemporal ‘Forceps Marks’ Syndrome. / Marion, Robert W.; Chitayat, David; Hutcheon, R. Gordon; Goldberg, Rosalie; Shprintzen, Robert J.; Cohen, M. Michael.
In: American Journal of Diseases of Children, Vol. 141, No. 8, 1987, p. 895-897.Research output: Contribution to journal › Article
}
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
Y1 - 1987
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.
UR - http://www.scopus.com/inward/record.url?scp=0023260088&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0023260088&partnerID=8YFLogxK
U2 - 10.1001/archpedi.1987.04460080081033
DO - 10.1001/archpedi.1987.04460080081033
M3 - Article
C2 - 3631024
AN - SCOPUS:0023260088
VL - 141
SP - 895
EP - 897
JO - JAMA Pediatrics
JF - JAMA Pediatrics
SN - 2168-6203
IS - 8
ER -