Calcaneocuboid coalition in Crouzonʼs syndrome (craniofacial dysostosis)

Mj, Goldberg

doi:10.2106/00004623-197759060-00018

Cited by 15 publications

(6 citation statements)

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“…This type of coalition appears to be relatively rare, although this impression may be due to the fact that it usually does not cause dysfunction (Conway & Cowell, 1969; Craig & Goldberg 1977). Pfitzner (1896) did not find any cases in his sample of 313 individuals, and a search of the literature produced only 15 clinical examples, several of which were associated with other abnormalities (Conway & Cowell, 1969; Pensieri et al ., 1985; Sarrafian, 1993; Frost & Fagan, 1995).…”

Section: Resultsmentioning

confidence: 99%

Identification of tarsal coalition and frequency estimates from skeletal samples

Case

Burnett

2010

Intl J of Osteoarchaeology

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Tarsal coalition is a congenital defect that results when adjacent tarsals fail to separate properly during embryonic development. Anatomically, coalitions present as non-osseous bridges of cartilage or fibrocartilage -and occasionally as osseous bridges -between two neighboring bones. In skeletons, non-osseous tarsal coalitions are recognizable as matching lesions between two bones at predictable locations. These coalitions are of interest because they are known to be heritable and are therefore useful for tracing genetic relatives in archaeological cemeteries, because they can be misinterpreted in skeletons as trauma or joint disease, and because they can result in associated pathology. However, despite a considerable literature on tarsal coalition, estimates of coalition frequencies disagree considerably, perhaps due to biases inherent in clinical sampling. In order to gain a better estimate of tarsal coalition frequencies in human populations, data were gathered on 342 European-Americans from the Terry Collection (Smithsonian Institution), 536 South Africans from the Dart Collection (University of Witwatersrand, South Africa), and 756 medieval Danish skeletons (Anthropological Database, Odense University). The Danish skeletons are archaeological, with sample sizes by coalition type ranging from 366-507 individuals. Examples of eight different types of intertarsal coalition were identified among the 1634 skeletons examined. Overall frequency estimates for tarsal coalition ranged from 2.1%-3.5%. South Africans exhibited significantly higher frequencies in the midfoot, with naviculocuneiform I coalition (1.0%) the most common type. Conversely, no coalitions of the midfoot were found among the Euro-Americans or medieval Danes. Instead, these groups exhibited calcaneonavicular coalition as the most common type in the hindfoot (2.0% and 2.1% respectively), while calcaneonavicular coalition was among the least common in the South Africans (0.2%).

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Section: Resultsmentioning

confidence: 99%

Identification of tarsal coalition and frequency estimates from skeletal samples

Case

Burnett

2010

Intl J of Osteoarchaeology

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“… Figures Obtained From: Apert syndrome: [Schauerte and St Aubin, 1966; Mah et al, 1991; Cohen and Kreiborg, 1993b; Cohen and Kreiborg, 1995; Anderson et al, 1999]; Crouzon syndrome: [Craig and Goldberg, 1977; Proudman et al, 1994; Anderson et al, 1997; Anderson et al, 1997a]; Jackson–Weiss syndrome: [Jackson et al, 1976; Ades et al, 1994; Li et al, 1994; Park et al, 1995; Heike et al, 2001]; Muenke syndrome: [This Report, Muenke et al, 1997; Trusen et al, 2003]; Pfeiffer syndrome: [Asnes and Morehead, 1969; Saldino et al, 1972; Naveh and Friedman, 1976; Anderson et al, 1998a; Rossi et al, 2003; Gripp et al, 1998; Roscioli et al, 2001; Hackett and Rowe, 2006]. …”

Section: Discussionmentioning

confidence: 99%

Carboxybetaine, sulfobetaine, and cationic block copolymer coatings: A comparison of the surface properties and antibiofouling behavior

Jasiński

Krishnan

2011

J of Applied Polymer Sci

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Two different zwitterionic block copolymers (BCs) and a cationic BC were synthesized from the same BC precursor, which consisted of a polystyrene (PS) block and a poly[N-(3-dimethylamino-1-propyl)acrylamide] block. The zwitterionic BCs contained the dimethylammonioacetate (carboxybetaine) and dimethylammoniopropyl sulfonate (sulfobetaine) groups. Thin films cast from these polymers were investigated for surface wettability, surface charge, and protein adsorption. Surface-energy parameters calculated with advancing contact angle (y a ) and receding contact angle (y r ) of different probe liquids showed that it was y r and not y a that was representative of the polar/ionic groups in the near-surface regions of the coatings. Electrophoretic mobility was used to characterize the influence of pH on the net surface charge. In aqueous dispersions, the carboxybetaine polymer showed an ampholyte behavior with an isoelectric point of 6, whereas the sulfobetaine polymer was found to be anionic at all pH values between 2 and 10. Protein adsorption on the carboxybetaine BC was relatively independent of the net charges on the protein or the polymer, but the negatively charged sulfobetaine polymer showed a higher adsorption of positively charged protein molecules. Regardless of the net protein charge, both zwitterionic coatings adsorbed less protein compared to the PS and poly(2,3,4,5,6-pentafluorostyrene) controls. The sulfobetaine and cationic BCs adsorbed higher amounts of oppositely charged protein molecules than like-charged protein molecules. However, the adsorption of oppositely charged protein was much higher on the cationic surface than on the sulfobetaine surface. The zwitterionic BCs, particularly the carboxybetaine polymer, from this article are expected to function as stable, low-fouling surface modifiers in different biological environments.

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“…In 24 cases reviewed, three patients had tarsal coalitions (13%), all involving the calcaneocuboid articulation. One of these patients was symptomatic, requiring surgical intervention for a calcaneocuboid coalition, a coalition that is generally thought of as inconsequential in the general population [Craig et al, 1977]. Crouzon syndrome is the only FGFR-related craniosynostosis described herein, in which the incidence of tarsal coalition is not statistically significant when compared to the general population (p=0.5078) (Table III).…”

Section: Foot Anomalies In Fgfr Related Syndromic Craniosynostosesmentioning

confidence: 94%

“… Table III Figures Obtained From: Apert syndrome: [Anderson et al, 1999; Cohen et al, 1993b; Cohen et al, 1995; Schauerte et al, 1996; Mah et al 1991] Crouzon syndrome: [Anderson et al, 1997a; Anderson et al, 1997; Craig et al, 1977; Proudman et al, 1994] Jackson-Weiss syndrome: [Jackson et al, 1976; Ades et al, 1994; Heike et al, 2001; Li et al, 1994; Parket al, 1995] Muenke syndrome: [This Report, Muenke et al, 1997; Trusen et al, 2003] Pfeiffer syndrome: [Rossi et al, 2003, Gripp et al, 1998, Roscioli et al, 2000; Anderson et al, 1998a; Saldino et al, 1972; Asnes et al, 1969; Naveh et al, 1976; Hacketet al, 2006] …”

Section: Figurementioning

confidence: 99%

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Talocalcaneal coalition in Muenke syndrome: Report of a patient, review of the literature in FGFR‐related craniosynostoses, and consideration of mechanism

Agochukwu

Solomon

Benson

et al. 2013

American J of Med Genetics Pt A

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Muenke syndrome is an autosomal dominant craniosynostosis syndrome resulting from a defining point mutation in the FGFR3 gene. Muenke syndrome is characterized by coronal craniosynostosis (bilateral more often than unilateral), hearing loss, developmental delay and carpal and/or tarsal bone coalition. Tarsal coalition is a distinct feature of Muenke syndrome and has been reported since the initial description of the disorder in the 1990s. Although talocalcaneal coalition is the most common tarsal coalition in the general population, it has never been previously been reported in a patient with Muenke syndrome. We present a 7-year-old female patient with Muenke syndrome and symptomatic talocalcaneal coalition. She presented at the age of 7 with limping, tenderness and pain in her right foot following a fall and strain of her right foot. She was treated with ibuprofen, shoe inserts, a CAM walker boot and stretching exercises without much improvement in symptoms. A Computed Tomography (CT) scan revealed bilateral talocalcaneal coalitions involving the middle facet. She underwent resection of the talocalcaneal coalitions, remaining pain-free postoperatively with an improvement in her range of motion, gait and mobility. This report expands the phenotype of tarsal coalition in Muenke syndrome to include talocalcaneal coalition. A literature review revealed a high incidence of tarsal coalition in all FGFR related craniosynostosis syndromes when compared to the general population, a difference that is statistically significant. The most common articulation involved in all syndromic craniosynostoses associated with FGFR mutations is the calcaneocuboid articulation.

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Calcaneocuboid coalition in Crouzonʼs syndrome (craniofacial dysostosis)

Cited by 15 publications

References 0 publications

Identification of tarsal coalition and frequency estimates from skeletal samples

Identification of tarsal coalition and frequency estimates from skeletal samples

Carboxybetaine, sulfobetaine, and cationic block copolymer coatings: A comparison of the surface properties and antibiofouling behavior

Talocalcaneal coalition in Muenke syndrome: Report of a patient, review of the literature in FGFR‐related craniosynostoses, and consideration of mechanism

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