Catel–Manzke syndrome: A clinical report suggesting autosomal recessive inheritance

Kiper, Pelin Özlem Şimşek; Ütine, Gülen Eda; Boduroğlu, Koray; Alanay, Yasemin

doi:10.1002/ajmg.a.34163

Cited by 8 publications

(11 citation statements)

References 10 publications

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“…Clinical data have been reported for Patient 5 by Kiper et al [2011]. He was described as a patient with Catel-Manzke syndrome with autosomal recessive inheritance [Kiper et al, 2011].…”

Section: Resultsmentioning

confidence: 95%

“…He was described as a patient with Catel-Manzke syndrome with autosomal recessive inheritance [Kiper et al, 2011]. Prenatal features were polyhydramnios, nuchal edema and short extremities.…”

Section: Resultsmentioning

confidence: 99%

“…To date, 34 patients have been reported in literature [Kapoor et al, 2011;Manzke et al, 2008]. Most of them are sporadic but some familial cases with various relationships (sibs, grandfathergrandchild) have been described and recently autosomal recessive inheritance has been suggested in one consanguineous family with recurrent sibs [Kiper et al, 2011].…”

Section: Introductionmentioning

confidence: 98%

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IMPAD1 mutations in two Catel‐Manzke like patients

Nizon

Alanay

Tüysüz

et al. 2012

American J of Med Genetics Pt A

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Catel-Manzke syndrome is characterized by hyperphalangism with bilateral deviation of the index fingers and micrognathia with or without cleft palate. Some atypical patients present with additional malformations. No molecular basis is yet available. Most patients have an unremarkable family history but autosomal recessive inheritance has been recently suggested in a consanguineous family with recurrence in sibs. Catel-Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, brachydactyly and cleft palate. The aim of our study was to screen CANT1 and IMPAD1 in Catel-Manzke patients. Three patients were diagnosed as classical Catel-Manzke syndrome and two as Catel-Manzke like patients, based on the presence of additional features. We identified two homozygous loss-of-function IMPAD1 mutations in the two Catel-Manzke like patients (p.Arg187X and p.Ser108ArgfsX48). The phenotype was characterized by severe growth retardation with short and abnormal extremities, cleft palate with micrognathia and knee hyperlaxity. Radiographs of hands and feet revealed numerous accessory bones with abnormally shaped phalanges and carpal synostosis. Based on this report, we concluded that IMPAD1 should be screened for patients with Catel-Manzke and additional features.

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“…Clinical data have been reported for Patient 5 by Kiper et al [2011]. He was described as a patient with Catel-Manzke syndrome with autosomal recessive inheritance [Kiper et al, 2011].…”

Section: Resultsmentioning

confidence: 95%

Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 98%

See 1 more Smart Citation

IMPAD1 mutations in two Catel‐Manzke like patients

Nizon

Alanay

Tüysüz

et al. 2012

American J of Med Genetics Pt A

Self Cite

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“…Clinodactyly V is common, but additional hand and foot anomalies are rare in typical Catel–Manzke syndrome (Brude, ; Dignan, Martin, & Zenni, ; Ehmke et al, ; Gorlin, Cervenka, & Pruzansky, ; Holthusen, ; Puri & Phadke, ). Twenty‐nine individuals with typical Catel–Manzke syndrome have been described as well as several patients with an atypical phenotype (Ehmke et al, ; Kapoor, Ghosh, Dhua, & Aggarwal, ; Kiper, Utine, Boduroglu, & Alanay, ; Kiraz, Tubas, Ekinci, Dogen, & Varli, ; Manzke, Lehmann, Klopocki, & Caliebe, ; Pferdehirt, Jain, Blazo, Lee, & Burrage, ; Stanghellini et al, ). To date, only one fetus with typical Catel–Manzke syndrome has been reported (Dignan et al, ).…”

Section: Introductionmentioning

confidence: 99%

Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel–Manzke syndrome in a fetus

Schoner

Bald

Horn

et al. 2017

American J of Med Genetics Pt A

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Pierre-Robin sequence, radial deviation, and ulnar clinodactyly of the index fingers due to an additional phalangeal bone, as well as heart defects are the key features of Catel-Manzke syndrome. Although mutations in TGDS were identified as the cause of this disorder, the pathogenetic mechanism remains unknown. Here, we report on a fetus with severe heart defect, nuchal edema, talipes, Pierre-Robin sequence, and bilateral deviation and clinodactyly of the index and middle fingers. Pregnancy was terminated at the 22nd week of gestation. Postmortem radiographs showed hypoplasia and V-shaped displacement of the second and third proximal phalanges of both hands as well as hypoplasia of the first metatarsals and the phalangeal bones of the halluces. The suggested diagnosis Catel-Manzke syndrome was confirmed by the detection of two compound heterozygous mutations in TGDS: The known variant c.298G>T; p.(Ala100Ser) and the so far undescribed variant c.895G>A; p.(Asp299Asn), located in the predicted substrate binding site of TGDS. This is the first report on the association of mutations in TGDS with additional anomalies of the middle fingers and halluces. We provide a detailed phenotypic characterization of the only fetus with molecularly confirmed Catel-Manzke syndrome, which is relevant for prenatal diagnosis. Our findings widen the phenotype spectrum caused by TGDS mutations and underline the phenotypic overlap with Temtamy preaxial brachydactyly syndrome. This improves our understanding of the prenatal development and the pathogenetic mechanism of Catel-Manzke syndrome.

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“…This syndrome was first described by Catel (1961). Most of the cases are sporadic, although recently autosomal recessive inheritance has been suggested (Kiper et al, 2011). Most of the cases are sporadic, although recently autosomal recessive inheritance has been suggested (Kiper et al, 2011).…”

Section: Introductionmentioning

confidence: 99%