Calcification of cartilages, brachytelephalangy and peripheral pulmonary stenosis. Confirmation of the Keutel syndrome

Fryns, J. P.; Fleteren, A van; Mattelaer, P; Berghe, Herman Van den

doi:10.1007/bf00442449

Cited by 30 publications

(20 citation statements)

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“…A possible explanation for this discrepancy is that warfarin is a dose-dependent inhibitor of the VK cycle and GGCX mutations lead to a permanent and persistent defect in gamma-carboxylation [54]. Deficiency of another VKDP, MGP, has also been associated with cardiac involvement, including pulmonary artery stenosis and ventricular septal defects [55,56]. …”

Section: Discussionmentioning

confidence: 99%

GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations

Vilder

Debacker

Vanakker

2017

IJMS

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Gamma-carboxylation, performed by gamma-glutamyl carboxylase (GGCX), is an enzymatic process essential for activating vitamin K-dependent proteins (VKDP) with important functions in various biological processes. Mutations in the encoding GGCX gene are associated with multiple phenotypes, amongst which vitamin K-dependent coagulation factor deficiency (VKCFD1) is best known. Other patients have skin, eye, heart or bone manifestations. As genotype–phenotype correlations were never described, literature was systematically reviewed in search of patients with at least one GGCX mutation with a phenotypic description, resulting in a case series of 47 patients. Though this number was too low for statistically valid correlations—a frequent problem in orphan diseases—we demonstrate the crucial role of the horizontally transferred transmembrane domain in developing cardiac and bone manifestations. Moreover, natural history suggests ageing as the principal determinant to develop skin and eye symptoms. VKCFD1 symptoms seemed more severe in patients with both mutations in the same protein domain, though this could not be linked to a more perturbed coagulation factor function. Finally, distinct GGCX functional domains might be dedicated to carboxylation of very specific VKDP. In conclusion, this systematic review suggests that there indeed may be genotype–phenotype correlations for GGCX-related phenotypes, which can guide patient counseling and management.

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Section: Discussionmentioning

confidence: 99%

GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations

Vilder

Debacker

Vanakker

2017

IJMS

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“…Cartilaginous abnormality of the pinna, leading to calcification, has been seen with brachydactyly in the Keutel syndrome. 8 In conclusion our pedigree presents a clear example of the digital manifestations found in type C brachydactyly. The similar changes in the big toes of all the subjects are of particular note and show an affinity with the changes in the fingers.…”

Section: Discussionmentioning

confidence: 65%

Brachydactyly type C associated with shortening of the hallux.

Rowe-Jones

Moss

Patton

1992

Journal of Medical Genetics

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A four generation autosomal dominant pedigree of brachydactyly type C is presented with its radiological features. The hands and feet were similarly affected. All the subjects showing these changes had shorter.ing of the big toes and, in addition, had cupped ears. the base of the proximal phalanx in the index and middle fingers. This typically produces ulnar deflection of the index finger.Associated abnormalities of the feet have only rarely been described before and no previous cases also having bilateral cup shaped ears have been reported.

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“…5). Of the previously reported cases [2,6] some were of normal intelligence and others [5,8] mentally retarded. Our patients, particularly the elder sibs, were of subnormal intelligence but none exhibited obvious mental retardation.…”

Section: Discussionmentioning

confidence: 94%

Keutel syndrome: A report of four cases

et al. 1989

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We report four new cases of Keutel syndrome. Clinical manifestation included abnormal cartilage ossification, multiple peripheral pulmonary stenosis (PPS), brachytelephalangism, subnormal IQ, repeated respiratory infections, otitis media and hearing loss. All four children have a typical facial appearance and are of consanguineous parents. Father and the fifth offspring exhibit a normal phenotype; the mother has pulmonary stenosis. This observation confirms Keutel syndrome as a distinct autosomal recessive syndrome.

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Calcification of cartilages, brachytelephalangy and peripheral pulmonary stenosis. Confirmation of the Keutel syndrome

Cited by 30 publications

References 0 publications

GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations

GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations

Brachydactyly type C associated with shortening of the hallux.

Keutel syndrome: A report of four cases

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