Abstract
We report on six Omani children from two consanguineous families, with a multiple congenital anomaly syndrome defined by arthrogryposis multiplex congenita, typical facial appearance, ophthalmologic anomalies, atrophic calf muscles, and interdigital, neck and axillar pterygia. In addition, the patients present unique features as a furrowed tongue and enlarged corneal nerves, undescribed previously in association with other distal arhtrogryposis syndromes (DA). The patients can be classified as multiple pterygium syndrome (Escobar syndrome) but display overlapping features with Freeman-Sheldon syndrome and arthrogryposis with ophthalmologic abnormalities. We excluded two known arthrogryposis loci on chromosome 9p13 (TPM2) and 11p15 (TNNI2, TNNT3). We conclude that our patients display a subtype of multiple pterygium syndrome with overlapping features to other DAs.
| Original language | English |
|---|---|
| Pages (from-to) | 151-157 |
| Number of pages | 7 |
| Journal | American Journal of Medical Genetics |
| Volume | 134 A |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Apr 15 2005 |
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Keywords
- Arthrogryposis
- Camptodactyly
- Duane anomaly
- Escobar syndrome
- Furrowed tongue
- Lagophthtalmos
- Ptosis
- Reduced corneal sensations
- Retinal vascular tortuosity
- Webbing
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
Escobar variant with pursed mouth, creased tongue, ophthalmologic features, and scoliosis in 6 children from Oman. / Rajab, Anna; Hoffmann, K.; Ganesh, A.; Sethu, A. U.; Mundlos, S.
In: American Journal of Medical Genetics, Vol. 134 A, No. 2, 15.04.2005, p. 151-157.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Escobar variant with pursed mouth, creased tongue, ophthalmologic features, and scoliosis in 6 children from Oman
AU - Rajab, Anna
AU - Hoffmann, K.
AU - Ganesh, A.
AU - Sethu, A. U.
AU - Mundlos, S.
PY - 2005/4/15
Y1 - 2005/4/15
N2 - We report on six Omani children from two consanguineous families, with a multiple congenital anomaly syndrome defined by arthrogryposis multiplex congenita, typical facial appearance, ophthalmologic anomalies, atrophic calf muscles, and interdigital, neck and axillar pterygia. In addition, the patients present unique features as a furrowed tongue and enlarged corneal nerves, undescribed previously in association with other distal arhtrogryposis syndromes (DA). The patients can be classified as multiple pterygium syndrome (Escobar syndrome) but display overlapping features with Freeman-Sheldon syndrome and arthrogryposis with ophthalmologic abnormalities. We excluded two known arthrogryposis loci on chromosome 9p13 (TPM2) and 11p15 (TNNI2, TNNT3). We conclude that our patients display a subtype of multiple pterygium syndrome with overlapping features to other DAs.
AB - We report on six Omani children from two consanguineous families, with a multiple congenital anomaly syndrome defined by arthrogryposis multiplex congenita, typical facial appearance, ophthalmologic anomalies, atrophic calf muscles, and interdigital, neck and axillar pterygia. In addition, the patients present unique features as a furrowed tongue and enlarged corneal nerves, undescribed previously in association with other distal arhtrogryposis syndromes (DA). The patients can be classified as multiple pterygium syndrome (Escobar syndrome) but display overlapping features with Freeman-Sheldon syndrome and arthrogryposis with ophthalmologic abnormalities. We excluded two known arthrogryposis loci on chromosome 9p13 (TPM2) and 11p15 (TNNI2, TNNT3). We conclude that our patients display a subtype of multiple pterygium syndrome with overlapping features to other DAs.
KW - Arthrogryposis
KW - Camptodactyly
KW - Duane anomaly
KW - Escobar syndrome
KW - Furrowed tongue
KW - Lagophthtalmos
KW - Ptosis
KW - Reduced corneal sensations
KW - Retinal vascular tortuosity
KW - Webbing
UR - http://www.scopus.com/inward/record.url?scp=15944422492&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=15944422492&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.30583
DO - 10.1002/ajmg.a.30583
M3 - Article
C2 - 15704180
AN - SCOPUS:15944422492
VL - 134 A
SP - 151
EP - 157
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 2
ER -