Entry - #277600 - WEILL-MARCHESANI SYNDROME 1; WMS1 - OMIM
# 277600

WEILL-MARCHESANI SYNDROME 1; WMS1


Alternative titles; symbols

WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE
SPHEROPHAKIA-BRACHYMORPHIA SYNDROME
MESODERMAL DYSMORPHODYSTROPHY, CONGENITAL


Phenotype-Gene Relationships

Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
19p13.2 Weill-Marchesani syndrome 1, recessive 277600 AR 3 ADAMTS10 608990
Clinical Synopsis
 
Phenotypic Series
 

INHERITANCE
- Autosomal recessive
GROWTH
Height
- Short stature, proportionate
- Adult male height 142-169 cm
- Adult female height 130-157 cm
Other
- Muscular build
HEAD & NECK
Head
- Brachycephaly
Face
- Maxillary hypoplasia
Eyes
- Severe myopia
- Glaucoma (75%)
- Ectopia lentis (64%)
- Blindness
- Microspherophakia (small, spherical lens) (94%)
- Shallow anterior chamber
- Cataract (21%)
Nose
- Depressed nasal bridge
Mouth
- Narrow palate
Teeth
- Malformed teeth
- Malaligned teeth
CARDIOVASCULAR
Heart
- Cardiac anomalies (39%)
- Mitral valve insufficiency
- Aortic valve stenosis
- Pulmonary valve stenosis
- Ductus arteriosus
- Ventricular septal defect
CHEST
Ribs Sternum Clavicles & Scapulae
- Wide ribs
SKELETAL
- Joint stiffness (hands, shoulder, elbows, knees, and ankles)
- Joint limitations
Skull
- Broad skull
- Small shallow orbits
Spine
- Scoliosis
- Increased lumbar lordosis
- Narrow spinal canal
Limbs
- Thin cortices
Hands
- Broad hands
- Brachydactyly
- Broad metacarpals
- Broad phalanges
Feet
- Broad metatarsals
SKIN, NAILS, & HAIR
Skin
- Thick skin (66%)
NEUROLOGIC
Central Nervous System
- Mental retardation, mild (11%)
MISCELLANEOUS
- See (608328) for a phenotypically similar autosomal dominant form
MOLECULAR BASIS
- Caused by mutation in the ADAM metallopeptidase domain with thrombospondin type 1 motif, 10 gene (ADAMTS10, 608990.0001)

TEXT

A number sign (#) is used with this entry because Weill-Marchesani syndrome-1 (WMS1) is caused by homozygous or compound heterozygous mutation in the ADAMTS10 gene (608990) on chromosome 19p13.


Description

Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects (summary by Dagoneau et al., 2004).

Genetic Heterogeneity of Weill-Marchesani Syndrome

A phenotypically similar, autosomal dominant form of WMS (WMS2; 608328) is caused by mutation in the FBN1 gene (134797) on chromosome 15q21. Autosomal recessive WMS3 (614819) is caused by mutation in the LTBP2 gene (602091) on chromosome 14q24. Autosomal recessive WMS4 (613195) is caused by mutation in the ADAMTS17 gene (607511) on chromosome 15q24.


Clinical Features

Weill (1932) and Marchesani (1939) first described the syndrome. Meyer and Holstein (1941) described 4 affected sibs whose parents were related. Features included short stature, spherophakia with glaucoma, and brachydactyly. Rennert (1969) described an affected 9-year-old boy with joint stiffness who had 'difficulty in extending his arms over his head.'

Ferrier et al. (1980) reported an affected 11-year-old girl who also had subvalvular fibromuscular aortic stenosis. Radiologic survey showed a disorder of enchondral growth, particularly evident in the extremities, with short and wide diaphyses, thick cortical bone, and relatively discrete epiphyseal deformities.

Giordano et al. (1997) found a case of WMS showing short stature, progressive joint stiffness, brachydactyly, and ectopia lentis. An unusual feature was the presence of 'primary' osteoporosis in the 28-year-old affected man, who was 130 cm tall.

In a literature review of 128 cases of Weill-Marchesani syndrome, including 57 autosomal recessive cases, 50 autosomal dominant cases, and 21 sporadic cases, Faivre et al. (2003) found no significant differences in mode of inheritance for short stature, brachydactyly, thick skin, mild mental retardation (13% of all patients), myopia, or glaucoma. Some differences were found for microspherophakia (94% in AR, 74% in AD), ectopia lentis (64% in AR, 84% in AD), joint limitations (49% in AR, 77% in AD), and cardiac anomalies (39% in AR, 13% in AD). Some heterozygotes for the AR form presented with some mild clinical manifestations of the disease. However, Faivre et al. (2003) concluded that there is general clinical homogeneity despite genetic heterogeneity in WMS.

Kojuri et al. (2007) described cardiac findings in 6 patients, 3 of whom were sibs, with WMS. The most notable ECG abnormality was prolonged QTc (QTc greater than 0.46 sec), which was detected in 3 of 6 patients. The most common echocardiographic abnormality was mitral valve prolapse (MVP), which was detected in 3 patients, 2 of whom also had prolonged QTc. One patient had both MVP and severe congenital valvular aortic stenosis.

Kutz et al. (2008) reported an 86-year-old man with autosomal recessive WMS. He had short stature, short fingers and hands, thick skin, stiff joints, lens dislocation, and severe glaucoma resulting in blindness. Intellect was unaffected.


Mapping

Megarbane et al. (2000) described an inbred Lebanese family in which 3 affected sibs had short stature, brachydactyly, limitation of joint movements, microspherophakia, luxated lenses, glaucoma, and heart malformations. The parents were relatively short but had no other features present in the sibs. Linkage analysis excluded 15q21.1 in the etiology of the syndrome.

Faivre et al. (2002) performed a genomewide search in 2 large affected consanguineous families of Lebanese and Saudi origin consistent with autosomal recessive inheritance. They mapped the disease gene to 19p13.3-p13.2; maximum lod = 5.99 at theta = 0 at locus D19S906.


Inheritance

The transmission pattern of WMS in the families studied by Dagoneau et al. (2004) was consistent with autosomal recessive inheritance.


Molecular Genetics

Dagoneau et al. (2004) described homozygous mutations in the ADAMTS10 gene (608990.0001-608990.0003) in the consanguineous Lebanese and Saudi families studied by Faivre et al. (2002). Dagoneau et al. (2004) stated that more than 100 known genes were found to map to the WMS critical region on 19p13. Of these genes, 5 were regarded as possible candidate genes on the basis of their function. A total of 3 distinct mutations were identified in 2 consanguineous families and in 1 sporadic WMS case, including 1 nonsense mutation and 2 splice mutations. Studies of the normal expression of ADAMTS10 using RT-PCR, Northern blot, and dot-blot analyses showed that ADAMTS10 is expressed in skin, fetal chondrocytes, and fetal and adult heart. Dagoneau et al. (2004) concluded that ADAMTS10 plays a major role in growth and in skin, lens, and heart development in humans.

In an 86-year-old man with autosomal recessive WMS, Kutz et al. (2008) identified compound heterozygosity for mutations in the ADAMTS10 gene (608990.0004-608990.0005).

In affected individuals from 2 consanguineous Saudi Arabian families with Weill-Marchesani syndrome, Morales et al. (2009) identified homozygosity for 2 different missense mutations in the ADAMTS10 gene (608990.0006 and 608990.0007, respectively). The 4 parents were heterozygous for the respective mutations; neither mutation was found in 300 ethnically matched controls. No mutations in ADAMTS10, ADAMTS17 (607511), or FBN1 (134797) were identified in a sporadic case, a 70-year-old man with WMS, suggesting further genetic heterogeneity.


History

McGavic (1959, 1966) reported presumed Weill-Marchesani syndrome in 3 generations, but on reinvestigation McKusick (1972) concluded that this was an instance of autosomal dominant ectopia lentis (129600) in a generally short-statured family.

The sisters reported by Feinberg (1960) did not have WMS. The same sisters were described by Gorlin et al. (1960) as having a possibly new syndrome (see 612289).


REFERENCES

  1. Dagoneau, N., Benoist-Lasselin, C., Huber, C., Faivre, L., Megarbane, A., Alswaid, A., Dollfus, H., Alembik, Y., Munnich, A., Legeai-Mallet, L., Cormier-Daire, V. ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am. J. Hum. Genet. 75: 801-806, 2004. [PubMed: 15368195, images, related citations] [Full Text]

  2. Faivre, L., Dollfus, H., Lyonnet, S., Alembik, Y., Megarbane, A., Samples, J., Gorlin, R. J., Alswaid, A., Feingold, J., Le Merrer, M., Munnich, A., Cormier-Daire, V. Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. Am. J. Med. Genet. 123A: 204-207, 2003. [PubMed: 14598350, related citations] [Full Text]

  3. Faivre, L., Megarbane, A., Alswaid, A., Zylberberg, L., Aldohayan, N., Campos-Xavier, A. B., Bacq, D., Legeai-Mallet, L., Bonaventure, J., Munnich, A., Cormier-Daire, V. Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2. Hum. Genet. 110: 366-370, 2002. [PubMed: 11941487, related citations] [Full Text]

  4. Feinberg, S. B. Congenital mesodermal dysmorpho-dystrophy (brachymorphic type). Radiology 74: 218-224, 1960. [PubMed: 13821935, related citations] [Full Text]

  5. Ferrier, S., Nussle, D., Friedlei, B., Ferrier, P. E. Le syndrome de Marchesani (spherophakie-brachymorphie). Helv. Paediat. Acta 35: 185-198, 1980. [PubMed: 7451233, related citations]

  6. Giordano, N., Senesi, M., Battisti, E., Mattii, G., Gennari, C. Weill-Marchesani syndrome: report of an unusual case. Calcif. Tissue Int. 60: 358-360, 1997. [PubMed: 9075633, related citations] [Full Text]

  7. Gorlin, R. J., Chaudhry, A. P., Moss, M. L. Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies--a new syndrome? J. Pediat. 56: 778-785, 1960. [PubMed: 13851313, related citations] [Full Text]

  8. Kloepfer, H. W., Rosenthal, J. W. Possible genetic carriers in the spherophakia-brachymorphia syndrome. Am. J. Hum. Genet. 7: 398-424, 1955. [PubMed: 13275462, related citations]

  9. Kojuri, J., Razeghinejad, M. R., Aslani, A. Cardiac findings in Weill-Marchesani syndrome. Am. J. Med. Genet. 143A: 2062-2064, 2007. [PubMed: 17663475, related citations] [Full Text]

  10. Kutz, W. E., Wang, L. W., Dagoneau, N., Odrcic, K. J., Cormier-Daire, V., Traboulsi, E. I., Apte, S. S. Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme. Hum. Mutat. 29: 1425-1434, 2008. [PubMed: 18567016, related citations] [Full Text]

  11. Marchesani, O. Brachydaktylie und angeborene Kugellinse als Systemerkrankung. Klin. Monatsbl. Augenheilkd. 103: 392-406, 1939.

  12. McGavic, J. S. Marchesani's syndrome. Am. J. Ophthal. 47: 413-414, 1959.

  13. McGavic, J. S. Weill-Marchesani syndrome: brachymorphism and ectopia lentis. Am. J. Ophthal. 62: 820-823, 1966. [PubMed: 5928829, related citations] [Full Text]

  14. McKusick, V. A. Heritable Disorders of Connective Tissue. (4th ed.) St. Louis: C. V. Mosby (pub.) 1972. Pp. 282-291.

  15. Megarbane, A., Mustapha, M., Bleik, J., Waked, N., Delague, V., Loiselet, J. Exclusion of chromosome 15q21.1 in autosomal-recessive Weill-Marchesani syndrome in an inbred Lebanese family. Clin. Genet. 58: 473-478, 2000. [PubMed: 11149617, related citations] [Full Text]

  16. Meyer, S. J., Holstein, T. Spherophakia with glaucoma and brachydactyly. Am. J. Ophthal. 24: 247-257, 1941.

  17. Morales, J., Al-Sharif, L., Khalil, D. S., Shinwari, J. M. A., Bavi, P., Al-Mahrouqi, R. A., Al-Rajhi, A., Alkuraya, F. S., Meyer, B. F., Al Tassan, N. Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. Am. J. Hum. Genet. 85: 558-568, 2009. [PubMed: 19836009, images, related citations] [Full Text]

  18. Rennert, O. M. The Marchesani syndrome: a brief review. Am. J. Dis. Child. 117: 703-705, 1969. [PubMed: 4239018, related citations] [Full Text]

  19. Stadlin, W., Klein, D. Ectopie congenitale du cristallin avec spherophaquie et brachymorphie accompagnee de paresis du regard (Syndrome de Marchesani). Ann. Ocul. (Paris) 181: 692-701, 1948.

  20. Weill, G. Ectopie du cristillins et malformations generales. Ann. Ocul. (Paris) 169: 21-44, 1932.


Marla J. F. O'Neill - updated : 9/13/2012
Marla J. F. O'Neill - updated : 12/24/2009
Cassandra L. Kniffin - updated : 2/18/2009
Kelly A. Przylepa - updated : 11/6/2007
Cassandra L. Kniffin - updated : 10/3/2005
Victor A. McKusick - updated : 10/21/2004
Victor A. McKusick - updated : 5/10/2002
Victor A. McKusick - updated : 1/2/2001
Victor A. McKusick - updated : 6/9/1997
Creation Date:
Victor A. McKusick : 6/4/1986
alopez : 03/17/2023
carol : 11/29/2022
carol : 02/13/2018
carol : 11/15/2017
carol : 07/09/2016
carol : 4/18/2016
carol : 11/11/2013
carol : 9/13/2012
terry : 9/13/2012
carol : 8/31/2011
terry : 11/16/2010
carol : 12/24/2009
wwang : 2/25/2009
ckniffin : 2/18/2009
carol : 11/6/2007
wwang : 10/17/2005
ckniffin : 10/3/2005
alopez : 10/22/2004
terry : 10/21/2004
mgross : 3/17/2004
carol : 12/12/2003
ckniffin : 12/9/2003
cwells : 5/29/2002
cwells : 5/20/2002
terry : 5/10/2002
carol : 1/3/2001
carol : 1/3/2001
terry : 1/2/2001
carol : 1/22/1999
terry : 6/23/1997
alopez : 6/11/1997
alopez : 6/9/1997
jamie : 1/7/1997
jamie : 1/6/1997
pfoster : 9/7/1994
davew : 8/22/1994
mimadm : 4/18/1994
warfield : 3/10/1994
supermim : 3/17/1992
carol : 3/2/1992

# 277600

WEILL-MARCHESANI SYNDROME 1; WMS1


Alternative titles; symbols

WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE
SPHEROPHAKIA-BRACHYMORPHIA SYNDROME
MESODERMAL DYSMORPHODYSTROPHY, CONGENITAL


ORPHA: 3449;   DO: 0050475;  


Phenotype-Gene Relationships

Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
19p13.2 Weill-Marchesani syndrome 1, recessive 277600 Autosomal recessive 3 ADAMTS10 608990

TEXT

A number sign (#) is used with this entry because Weill-Marchesani syndrome-1 (WMS1) is caused by homozygous or compound heterozygous mutation in the ADAMTS10 gene (608990) on chromosome 19p13.


Description

Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects (summary by Dagoneau et al., 2004).

Genetic Heterogeneity of Weill-Marchesani Syndrome

A phenotypically similar, autosomal dominant form of WMS (WMS2; 608328) is caused by mutation in the FBN1 gene (134797) on chromosome 15q21. Autosomal recessive WMS3 (614819) is caused by mutation in the LTBP2 gene (602091) on chromosome 14q24. Autosomal recessive WMS4 (613195) is caused by mutation in the ADAMTS17 gene (607511) on chromosome 15q24.


Clinical Features

Weill (1932) and Marchesani (1939) first described the syndrome. Meyer and Holstein (1941) described 4 affected sibs whose parents were related. Features included short stature, spherophakia with glaucoma, and brachydactyly. Rennert (1969) described an affected 9-year-old boy with joint stiffness who had 'difficulty in extending his arms over his head.'

Ferrier et al. (1980) reported an affected 11-year-old girl who also had subvalvular fibromuscular aortic stenosis. Radiologic survey showed a disorder of enchondral growth, particularly evident in the extremities, with short and wide diaphyses, thick cortical bone, and relatively discrete epiphyseal deformities.

Giordano et al. (1997) found a case of WMS showing short stature, progressive joint stiffness, brachydactyly, and ectopia lentis. An unusual feature was the presence of 'primary' osteoporosis in the 28-year-old affected man, who was 130 cm tall.

In a literature review of 128 cases of Weill-Marchesani syndrome, including 57 autosomal recessive cases, 50 autosomal dominant cases, and 21 sporadic cases, Faivre et al. (2003) found no significant differences in mode of inheritance for short stature, brachydactyly, thick skin, mild mental retardation (13% of all patients), myopia, or glaucoma. Some differences were found for microspherophakia (94% in AR, 74% in AD), ectopia lentis (64% in AR, 84% in AD), joint limitations (49% in AR, 77% in AD), and cardiac anomalies (39% in AR, 13% in AD). Some heterozygotes for the AR form presented with some mild clinical manifestations of the disease. However, Faivre et al. (2003) concluded that there is general clinical homogeneity despite genetic heterogeneity in WMS.

Kojuri et al. (2007) described cardiac findings in 6 patients, 3 of whom were sibs, with WMS. The most notable ECG abnormality was prolonged QTc (QTc greater than 0.46 sec), which was detected in 3 of 6 patients. The most common echocardiographic abnormality was mitral valve prolapse (MVP), which was detected in 3 patients, 2 of whom also had prolonged QTc. One patient had both MVP and severe congenital valvular aortic stenosis.

Kutz et al. (2008) reported an 86-year-old man with autosomal recessive WMS. He had short stature, short fingers and hands, thick skin, stiff joints, lens dislocation, and severe glaucoma resulting in blindness. Intellect was unaffected.


Mapping

Megarbane et al. (2000) described an inbred Lebanese family in which 3 affected sibs had short stature, brachydactyly, limitation of joint movements, microspherophakia, luxated lenses, glaucoma, and heart malformations. The parents were relatively short but had no other features present in the sibs. Linkage analysis excluded 15q21.1 in the etiology of the syndrome.

Faivre et al. (2002) performed a genomewide search in 2 large affected consanguineous families of Lebanese and Saudi origin consistent with autosomal recessive inheritance. They mapped the disease gene to 19p13.3-p13.2; maximum lod = 5.99 at theta = 0 at locus D19S906.


Inheritance

The transmission pattern of WMS in the families studied by Dagoneau et al. (2004) was consistent with autosomal recessive inheritance.


Molecular Genetics

Dagoneau et al. (2004) described homozygous mutations in the ADAMTS10 gene (608990.0001-608990.0003) in the consanguineous Lebanese and Saudi families studied by Faivre et al. (2002). Dagoneau et al. (2004) stated that more than 100 known genes were found to map to the WMS critical region on 19p13. Of these genes, 5 were regarded as possible candidate genes on the basis of their function. A total of 3 distinct mutations were identified in 2 consanguineous families and in 1 sporadic WMS case, including 1 nonsense mutation and 2 splice mutations. Studies of the normal expression of ADAMTS10 using RT-PCR, Northern blot, and dot-blot analyses showed that ADAMTS10 is expressed in skin, fetal chondrocytes, and fetal and adult heart. Dagoneau et al. (2004) concluded that ADAMTS10 plays a major role in growth and in skin, lens, and heart development in humans.

In an 86-year-old man with autosomal recessive WMS, Kutz et al. (2008) identified compound heterozygosity for mutations in the ADAMTS10 gene (608990.0004-608990.0005).

In affected individuals from 2 consanguineous Saudi Arabian families with Weill-Marchesani syndrome, Morales et al. (2009) identified homozygosity for 2 different missense mutations in the ADAMTS10 gene (608990.0006 and 608990.0007, respectively). The 4 parents were heterozygous for the respective mutations; neither mutation was found in 300 ethnically matched controls. No mutations in ADAMTS10, ADAMTS17 (607511), or FBN1 (134797) were identified in a sporadic case, a 70-year-old man with WMS, suggesting further genetic heterogeneity.


History

McGavic (1959, 1966) reported presumed Weill-Marchesani syndrome in 3 generations, but on reinvestigation McKusick (1972) concluded that this was an instance of autosomal dominant ectopia lentis (129600) in a generally short-statured family.

The sisters reported by Feinberg (1960) did not have WMS. The same sisters were described by Gorlin et al. (1960) as having a possibly new syndrome (see 612289).


See Also:

Kloepfer and Rosenthal (1955); Stadlin and Klein (1948)

REFERENCES

  1. Dagoneau, N., Benoist-Lasselin, C., Huber, C., Faivre, L., Megarbane, A., Alswaid, A., Dollfus, H., Alembik, Y., Munnich, A., Legeai-Mallet, L., Cormier-Daire, V. ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am. J. Hum. Genet. 75: 801-806, 2004. [PubMed: 15368195] [Full Text: https://doi.org/10.1086/425231]

  2. Faivre, L., Dollfus, H., Lyonnet, S., Alembik, Y., Megarbane, A., Samples, J., Gorlin, R. J., Alswaid, A., Feingold, J., Le Merrer, M., Munnich, A., Cormier-Daire, V. Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. Am. J. Med. Genet. 123A: 204-207, 2003. [PubMed: 14598350] [Full Text: https://doi.org/10.1002/ajmg.a.20289]

  3. Faivre, L., Megarbane, A., Alswaid, A., Zylberberg, L., Aldohayan, N., Campos-Xavier, A. B., Bacq, D., Legeai-Mallet, L., Bonaventure, J., Munnich, A., Cormier-Daire, V. Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2. Hum. Genet. 110: 366-370, 2002. [PubMed: 11941487] [Full Text: https://doi.org/10.1007/s00439-002-0689-3]

  4. Feinberg, S. B. Congenital mesodermal dysmorpho-dystrophy (brachymorphic type). Radiology 74: 218-224, 1960. [PubMed: 13821935] [Full Text: https://doi.org/10.1148/74.2.218]

  5. Ferrier, S., Nussle, D., Friedlei, B., Ferrier, P. E. Le syndrome de Marchesani (spherophakie-brachymorphie). Helv. Paediat. Acta 35: 185-198, 1980. [PubMed: 7451233]

  6. Giordano, N., Senesi, M., Battisti, E., Mattii, G., Gennari, C. Weill-Marchesani syndrome: report of an unusual case. Calcif. Tissue Int. 60: 358-360, 1997. [PubMed: 9075633] [Full Text: https://doi.org/10.1007/s002239900243]

  7. Gorlin, R. J., Chaudhry, A. P., Moss, M. L. Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies--a new syndrome? J. Pediat. 56: 778-785, 1960. [PubMed: 13851313] [Full Text: https://doi.org/10.1016/s0022-3476(60)80315-0]

  8. Kloepfer, H. W., Rosenthal, J. W. Possible genetic carriers in the spherophakia-brachymorphia syndrome. Am. J. Hum. Genet. 7: 398-424, 1955. [PubMed: 13275462]

  9. Kojuri, J., Razeghinejad, M. R., Aslani, A. Cardiac findings in Weill-Marchesani syndrome. Am. J. Med. Genet. 143A: 2062-2064, 2007. [PubMed: 17663475] [Full Text: https://doi.org/10.1002/ajmg.a.31861]

  10. Kutz, W. E., Wang, L. W., Dagoneau, N., Odrcic, K. J., Cormier-Daire, V., Traboulsi, E. I., Apte, S. S. Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme. Hum. Mutat. 29: 1425-1434, 2008. [PubMed: 18567016] [Full Text: https://doi.org/10.1002/humu.20797]

  11. Marchesani, O. Brachydaktylie und angeborene Kugellinse als Systemerkrankung. Klin. Monatsbl. Augenheilkd. 103: 392-406, 1939.

  12. McGavic, J. S. Marchesani's syndrome. Am. J. Ophthal. 47: 413-414, 1959.

  13. McGavic, J. S. Weill-Marchesani syndrome: brachymorphism and ectopia lentis. Am. J. Ophthal. 62: 820-823, 1966. [PubMed: 5928829] [Full Text: https://doi.org/10.1016/0002-9394(66)91904-0]

  14. McKusick, V. A. Heritable Disorders of Connective Tissue. (4th ed.) St. Louis: C. V. Mosby (pub.) 1972. Pp. 282-291.

  15. Megarbane, A., Mustapha, M., Bleik, J., Waked, N., Delague, V., Loiselet, J. Exclusion of chromosome 15q21.1 in autosomal-recessive Weill-Marchesani syndrome in an inbred Lebanese family. Clin. Genet. 58: 473-478, 2000. [PubMed: 11149617] [Full Text: https://doi.org/10.1034/j.1399-0004.2000.580608.x]

  16. Meyer, S. J., Holstein, T. Spherophakia with glaucoma and brachydactyly. Am. J. Ophthal. 24: 247-257, 1941.

  17. Morales, J., Al-Sharif, L., Khalil, D. S., Shinwari, J. M. A., Bavi, P., Al-Mahrouqi, R. A., Al-Rajhi, A., Alkuraya, F. S., Meyer, B. F., Al Tassan, N. Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. Am. J. Hum. Genet. 85: 558-568, 2009. [PubMed: 19836009] [Full Text: https://doi.org/10.1016/j.ajhg.2009.09.011]

  18. Rennert, O. M. The Marchesani syndrome: a brief review. Am. J. Dis. Child. 117: 703-705, 1969. [PubMed: 4239018] [Full Text: https://doi.org/10.1001/archpedi.1969.02100030705016]

  19. Stadlin, W., Klein, D. Ectopie congenitale du cristallin avec spherophaquie et brachymorphie accompagnee de paresis du regard (Syndrome de Marchesani). Ann. Ocul. (Paris) 181: 692-701, 1948.

  20. Weill, G. Ectopie du cristillins et malformations generales. Ann. Ocul. (Paris) 169: 21-44, 1932.


Contributors:
Marla J. F. O'Neill - updated : 9/13/2012
Marla J. F. O'Neill - updated : 12/24/2009
Cassandra L. Kniffin - updated : 2/18/2009
Kelly A. Przylepa - updated : 11/6/2007
Cassandra L. Kniffin - updated : 10/3/2005
Victor A. McKusick - updated : 10/21/2004
Victor A. McKusick - updated : 5/10/2002
Victor A. McKusick - updated : 1/2/2001
Victor A. McKusick - updated : 6/9/1997

Creation Date:
Victor A. McKusick : 6/4/1986

Edit History:
alopez : 03/17/2023
carol : 11/29/2022
carol : 02/13/2018
carol : 11/15/2017
carol : 07/09/2016
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carol : 11/11/2013
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terry : 9/13/2012
carol : 8/31/2011
terry : 11/16/2010
carol : 12/24/2009
wwang : 2/25/2009
ckniffin : 2/18/2009
carol : 11/6/2007
wwang : 10/17/2005
ckniffin : 10/3/2005
alopez : 10/22/2004
terry : 10/21/2004
mgross : 3/17/2004
carol : 12/12/2003
ckniffin : 12/9/2003
cwells : 5/29/2002
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terry : 5/10/2002
carol : 1/3/2001
carol : 1/3/2001
terry : 1/2/2001
carol : 1/22/1999
terry : 6/23/1997
alopez : 6/11/1997
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jamie : 1/7/1997
jamie : 1/6/1997
pfoster : 9/7/1994
davew : 8/22/1994
mimadm : 4/18/1994
warfield : 3/10/1994
supermim : 3/17/1992
carol : 3/2/1992