Craniosynostosis associated with ectopia lentis in monozygotic twin sisters

Cruysberg, J.R.M.; Ravenswaaij-Arts, Conny M. A. van; Pinckers, A.; Roddi, Roberto; Brunner, H.G.

doi:10.1002/(sici)1096-8628(19990129)82:3<201::aid-ajmg1>3.0.co;2-e

Cited by 4 publications

(7 citation statements)

References 5 publications

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“…The cases reported by Pesme et al [1950] and Reichel et al [1992] were sporadic. The report of Cruysberg et al [1999] supports a genetic cause for this association. The authors hypothesized that the inheritance may have been autosomal recessive or, more likely, an autosomal dominant new mutation.…”

Section: Discussionmentioning

confidence: 82%

“…A review of the literature revealed three reports of craniosynostosis in association with ectopia lentis: Pesme et al [1950] reported on a mentally retarded male with oxycephaly and bilateral ectopia lentis; Reichel et al [1992] reported on a male with oxycephaly, bilateral ectopia lentis, and total retinal detachment in one eye; Cruysberg et al [1999] reported on monozygotic twin sisters with craniosynostosis (one twin had premature closure of the sagittal suture while the other twin had premature closure of the metopic suture) and bilateral ectopia lentis. The cases reported by Pesme et al [1950] and Reichel et al [1992] were sporadic.…”

Section: Discussionmentioning

confidence: 99%

“…A review of the literature revealed three reports of the occurrence of craniosynostosis with ectopia lentis; two of these were sporadic in nature [Pesme et al, 1950; Reichel et al, 1992]. Recently, Cruysberg et al [1999] reported on monozygotic twin sisters with craniosynostosis and ectopia lentis, supporting a genetic etiology for this association. The authors hypothesized that the occurrence of craniosynostosis and ectopia lentis in their case was most likely due to an autosomal dominant new mutation.…”

Section: Introductionmentioning

confidence: 99%

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Craniosynostosis, ectopia lentis, and congenital heart defects: Further delineation of an autosomal dominant syndrome with incomplete penetrance

Quercia

Teebi

2001

Am. J. Med. Genet.

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The association of craniosynostosis with ectopia lentis is extremely rare. This was recently reported in monozygotic twin sisters, supporting a genetic etiology for this syndromic association. We report on female first cousins once removed who were born with unilateral coronal synostosis. One cousin also had peripheral pulmonic branch stenosis at birth and was later found to have ectopia lentis and severe myopia. The other cousin had an atrial septal defect, mitral valve prolapse, and only mild myopia. Their intelligence is normal. The inheritance is likely autosomal dominant with variable expression and incomplete penetrance and further defines this syndrome to include congenital heart defects. These findings will have important implications for genetic counseling.

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Section: Discussionmentioning

confidence: 82%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Craniosynostosis, ectopia lentis, and congenital heart defects: Further delineation of an autosomal dominant syndrome with incomplete penetrance

Quercia

Teebi

2001

Am. J. Med. Genet.

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“…Two of those cases are attributed to dominant mutations in FBN1 and an overall phenotype described as neonatal or early-onset Marfan syndrome (eoMFS) [ 25 , 26 ]. Four cases are attributed to recessive mutations in ADAMTSL4 and present exclusively with CS and EL [ 27 – 29 , 32 ]. (Overwater et al [ 29 ] reports the genotype of one of the monozygotic twins described by Cruysberg et al [ 32 ].…”

Section: Discussionmentioning

confidence: 99%

Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis

Gustafson¹,

Björk

Ravenswaaij-Arts

et al. 2022

Case Reports in Genetics

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Craniosynostosis, the premature fusion of the calvarial bones, has numerous etiologies. Among them, several involve mutations in genes related to the TGFb signaling pathway, a critical molecular mediator of human development. These TGFb pathway-associated craniosynostosis syndromes include Loeys–Dietz syndrome (LDS) and Shprintzen–Goldberg syndrome (SGS). LDS and SGS have many similarities common to fibrillinopathies, specifically Marfan syndrome (MFS), which is caused by mutations in FBN1. Historically discriminating features of MFS from LDS and SGS are (1) the presence of ectopia lentis (the subluxation/dislocation of the ocular lens) and (2) the absence of craniosynostosis. Curiously, several instances of a seemingly novel syndrome involving only craniosynostosis and ectopia lentis have recently been reported to be caused by recessive mutations in ADAMTSL4, a poorly characterized gene as of yet. Here, we report on two new cases of craniosynostosis with ectopia lentis, each harboring recessive mutations in ADAMTSL4. We also discuss a proposed mechanism for the relationship between ADAMTSL4, FBN1, and TGFb pathway-related syndromes.

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“…The disorder has been reviewed by Quercia and Teebi [2002], who reported two cousins: one with craniosynostosis, ectopia lentis, and peripheral pulmonic synostosis, the other with craniosynostosis, atrial septal defect, and mitral valve prolapse, but no ectopia lentis. Cruysberg et al [1999] reported affected monozygotic twin sisters. Pesme et al [1950] and Reichel et al [1992] each described sporadic cases.…”

mentioning

confidence: 99%