Index finger hyperphalangy and multiple anomalies: Catel‐manzke syndrome?

Wilson, Golder N.; King, Teresa E.; Brookshire, Gail S.

doi:10.1002/ajmg.1320460215

Cited by 12 publications

(5 citation statements)

References 11 publications

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“…Some of them had other skeletal abnormalities including club foot, knee dislocations, joint hyperlaxity, pectus excavatum, vertebral abnormalities, hand anomalies with supernumerary ossification center, or clinodactyly [Thompson et al, 1986]. Iris coloboma, hearing loss, malformed ears and dilated cerebral ventricles have also been noticed in a few patients [Wilson et al, 1993]. The presence of these additional features supports the screening of IMPAD1 in these atypical patients.…”

Section: Discussionmentioning

confidence: 63%

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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Section: Discussionmentioning

confidence: 63%

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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“…The extra bone is sometimes described as wedge-shaped (Rowe- Jones et al, 1992). Catel-Manzke syndrome anomalies include duplication of the proximal phalanx or metacarpal, or an extra bone proximal to the proximal phalanx of the second digit (Wilson et al, 1993). Human developmental anomalies that give rise to hyperphalangy usually involve one extra bone in one digit, in contrast to the multiple additional phalanges found in several digits in cetaceans.…”

Section: Modifications Of Phalangeal Numbermentioning

confidence: 99%

Patterns of ossification in the manus of the harbor porpoise (Phocoena phocoena): Hyperphalangy and delta‐shaped bones

Dawson

2003

Journal of Morphology

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With the transition from terrestrial to aquatic habitats, cetacean forelimbs have undergone significant modifications in bone morphology and soft tissue distribution. Some, but not all, of these modifications are also demonstrated in other lineages of extant and extinct secondarily aquatic tetrapods. This study examines the ontogenetic pattern of ossification of the manus of the harbor porpoise (Phocoena phocoena), using plain film radiography. Two modifications examined are hyperphalangy (number of phalanges per digit increased beyond the typical mammalian number) and the morphology of delta-shaped bones. Hyperphalangy in Phocoena phocoena is apparent in digits 2 and 3. Phalangeal counts in all digits are variable (sometimes between the right and left flippers of the same individual) and are not necessarily correlated with age. Phalangeal ossification and epiphyseal fusion proceeds along the proximo-distal axis within each digit. In addition, digits 2 and 3 are at a more advanced stage of ossification than more abaxial digits. Delta-shaped bones appear to be a normal stage in the ossification of phalanges in all digits except the third, and may persist in the adult in certain digits. In humans, this morphology is a developmental anomaly usually associated with other malformations, such as polydactyly or syndactyly. Delta-shaped bones in the cetacean manus display a consistent orientation and the process by which they are formed may be similar to that in extinct marine reptiles.

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“…5 Previously, 26 individuals from 24 families with typical Catel-Manzke syndrome have been reported 2,3,[6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23] (reviewed by Manzke et al 5 ). Ten cases of an atypical form of Catel-Manzke syndrome have been described, including individuals with an extended phenotype 20,[24][25][26][27][28] and case subjects with unilateral hyperphalangism. 15,29,30 Additionally, two cases of Manzke dysostosis without Pierre Robin sequence have been reported.…”

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confidence: 99%

Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome

Ehmke

Caliebe

Koenig

et al. 2014

The American Journal of Human Genetics

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Catel-Manzke syndrome is characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. We describe the identification of homozygous and compound heterozygous mutations in TGDS in seven unrelated individuals with typical Catel-Manzke syndrome by exome sequencing. Six different TGDS mutations were detected: c.892A>G (p.Asn298Asp), c.270_271del (p.Lys91Asnfs(∗)22), c.298G>T (p.Ala100Ser), c.294T>G (p.Phe98Leu), c.269A>G (p.Glu90Gly), and c.700T>C (p.Tyr234His), all predicted to be disease causing. By using haplotype reconstruction we showed that the mutation c.298G>T is probably a founder mutation. Due to the spectrum of the amino acid changes, we suggest that loss of function in TGDS is the underlying mechanism of Catel-Manzke syndrome. TGDS (dTDP-D-glucose 4,6-dehydrogenase) is a conserved protein belonging to the SDR family and probably plays a role in nucleotide sugar metabolism.

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Index finger hyperphalangy and multiple anomalies: Catel‐manzke syndrome?

Cited by 12 publications

References 11 publications

IMPAD1 mutations in two Catel‐Manzke like patients

IMPAD1 mutations in two Catel‐Manzke like patients

Patterns of ossification in the manus of the harbor porpoise (Phocoena phocoena): Hyperphalangy and delta‐shaped bones

Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome

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