Autosomal recessive Peters anomaly, typical facial appearance, failure to thrive, hydrocephalus, and other anomalies: Further delineation of the Krause‐Kivlin syndrome

Frydman, Moshe; Weinstock, Arie; Cohen, Herman Avner; Savir, H; Varsano, I

doi:10.1002/ajmg.1320400107

Cited by 30 publications

(18 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This latter group is subdivided into short limb dwarfism, designated Peters-plus syndrome, and others, including well-defined syndromes. Peters-plus syndrome is thought to be autosomal recessive because of the occurrence of consanguineous matings [Kivlin et al, 1986;van Schooneveld et al, 1984;de Almeida et al, 1991;Frydman et al, 1991]. None of our cases fulfill the diagnostic criteria of Peters-plus syndrome.…”

Section: Ocular Anterior Chamber Dysgenesiscontrasting

confidence: 48%

Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation

et al. 1999

View full text Add to dashboard Cite

Fibroblast growth factor receptor (FGFR) mutations have been found in craniosynostosis syndromes with and without limb and/or dermatologic anomalies. Ocular manifestations of FGFR2 syndromes are reported to include shallow orbits, proptosis, strabismus, and hypertelorism, but no ocular anterior chamber, structural abnormalities have been reported until now. We evaluated three unrelated patients with severe Crouzon or Pfeiffer syndrome. Two of them had ocular findings consistent with Peters anomaly, and the third patient had opaque corneae, thickened irides and ciliary bodies, and shallow anterior chambers with occluded angles. Craniosynostosis with and without cloverleaf skull deformity, large anterior fontanelle, hydrocephalus, proptosis, depressed nasal bridge, choanal stenosis/ atresia, midface hypoplasia, and elbow contractures were also present. These patients had airway compromise, seizures, and two died by age 15 months. All three cases were found to have the same FGFR2 Ser351Cys (1231C to G) mutation predicted to form an aberrant disulfide bond(s) and affect ligand binding. Seven patients with isolated Peters anomaly, two patients with Peters plus syndrome, and three cases with typical Antley-Bixler syndrome were screened for this mutation, but none was found. These phenotype/genotype data demonstrate that FGFR2 is involved in the development of the anterior chamber of the eye and that the Ser351Cys mutation is associated with a severe phenotype and clinical course.

show abstract

Section: Ocular Anterior Chamber Dysgenesiscontrasting

confidence: 48%

Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation

et al. 1999

View full text Add to dashboard Cite

show abstract

“…Although reported central nervous system anomalies in PPS have included enlarged ventricles [Cabral de Almeida et al, 1991], agenesis of the corpus callosum [Camera et al, 1993], and pareitotemporal [Frydman et al, 1991] or general brain atrophy [Ishikiriyama et al, 1992]; our patient showed no general or pituitary abnormalities on brain MRI.…”

Section: Discussionmentioning

confidence: 74%

Growth hormone deficiency (GHD): A new association in Peters' plus syndrome (PPS)

Lee

2003

American J of Med Genetics Pt A

View full text Add to dashboard Cite

We report a case of a girl with clinical features of Peters' Plus Syndrome (PPS) (association of anterior eye chamber defects; peculiar facies; cleft lip/palate; brachymelia; developmental delay; growth retardation) and documented growth hormone deficiency (height -3.5 SDS at chronological age 5 years 8 months; low growth factors; bone age delay; growth velocity 4.4 cm/year (<3rd centile); and peak growth hormone levels of 1.7 and 4.7 ng/ml by clonidine and insulin provocative testing, respectively). Treatment with recombinant human growth hormone (0.3 mg/kg/week) resulted in a dramatic increase in growth velocity, increasing the height from -3.5 to -1.5 SDS over 2.3 years of therapy, indicative of an excellent response. Growth retardation is a known association in PPS: a condition that includes other midline facial defects. This case supports a role for GHD in the pathogenesis of the short stature observed in these children; demonstrates the efficacy of GH treatment; and further reinforces the relationship of pituitary anomalies with common congenital defects.

show abstract

“…This association strongly suggests that the pathogenesis of Peters anomaly depends upon the maldevelopment of the craniofacial neural crest cells. In some pedigrees, the inheritance has been described as being autosomal dominant (11) or autosomal recessive (45,46), while in others it has been stated as being sporadic (47). This suggests that there are multiple causative genes for Peters anomaly.…”

Section: Discussionmentioning

confidence: 99%

Heparan sulfate deficiency leads to Peters anomaly in mice by disturbing neural crest TGF-β2 signaling

Iwao

Inatani²,

Matsumoto

et al. 2009

J. Clin. Invest.

View full text Add to dashboard Cite

During human embryogenesis, neural crest cells migrate to the anterior chamber of the eye and then differentiate into the inner layers of the cornea, the iridocorneal angle, and the anterior portion of the iris. When proper development does not occur, this causes iridocorneal angle dysgenesis and intraocular pressure (IOP) elevation, which ultimately results in developmental glaucoma. Here, we show that heparan sulfate (HS) deficiency in mouse neural crest cells causes anterior chamber dysgenesis, including corneal endothelium defects, corneal stroma hypoplasia, and iridocorneal angle dysgenesis. These dysfunctions are phenotypes of the human developmental glaucoma, Peters anomaly. In the neural crest cells of mice embryos, disruption of the gene encoding exostosin 1 (Ext1), which is an indispensable enzyme for HS synthesis, resulted in disturbed TGF-β 2 signaling. This led to reduced phosphorylation of Smad2 and downregulated expression of forkhead box C1 (Foxc1) and paired-like homeodomain transcription factor 2 (Pitx2), transcription factors that have been identified as the causative genes for developmental glaucoma. Furthermore, impaired interactions between HS and TGF-β 2 induced developmental glaucoma, which was manifested as an IOP elevation caused by iridocorneal angle dysgenesis. These findings suggest that HS is necessary for neural crest cells to form the anterior chamber via TGF-β 2 signaling. Disturbances of HS synthesis might therefore contribute to the pathology of developmental glaucoma.

show abstract

Autosomal recessive Peters anomaly, typical facial appearance, failure to thrive, hydrocephalus, and other anomalies: Further delineation of the Krause‐Kivlin syndrome

Cited by 30 publications

References 21 publications

Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation

Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation

Growth hormone deficiency (GHD): A new association in Peters' plus syndrome (PPS)

Heparan sulfate deficiency leads to Peters anomaly in mice by disturbing neural crest TGF-β2 signaling

Contact Info

Product

Resources

About